Angelman Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

NGELMAN YNDROME A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R EFERENCES J AME...

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NGELMAN YNDROME A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R EFERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright Ó2003 by ICON Group International, Inc. Copyright Ó2003 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Angelman Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-83552-7 1. Angelman Syndrome-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on Angelman syndrome. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications.

Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes & Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON ANGELMAN SYNDROME .......................................................................... 3 Overview ....................................................................................................................................... 3 The Combined Health Information Database ................................................................................ 3 Federally Funded Research on Angelman Syndrome .................................................................... 4 E-Journals: PubMed Central ......................................................................................................... 5 The National Library of Medicine: PubMed.................................................................................. 6 CHAPTER 2. NUTRITION AND ANGELMAN SYNDROME ................................................................ 37 Overview ..................................................................................................................................... 37 Finding Nutrition Studies on Angelman Syndrome................................................................... 37 Federal Resources on Nutrition................................................................................................... 38 Additional Web Resources........................................................................................................... 39 CHAPTER 3. ALTERNATIVE MEDICINE AND ANGELMAN SYNDROME .......................................... 41 Overview ..................................................................................................................................... 41 National Center for Complementary and Alternative Medicine ................................................. 41 Additional Web Resources........................................................................................................... 42 General References....................................................................................................................... 43 CHAPTER 4. CLINICAL TRIALS AND ANGELMAN SYNDROME ....................................................... 45 Overview ..................................................................................................................................... 45 Recent Trials on Angelman Syndrome........................................................................................ 45 Keeping Current on Clinical Trials ............................................................................................. 46 CHAPTER 5. BOOKS ON ANGELMAN SYNDROME........................................................................... 49 Overview ..................................................................................................................................... 49 Chapters on Angelman Syndrome............................................................................................... 49 CHAPTER 6. MULTIMEDIA ON ANGELMAN SYNDROME ................................................................ 51 Overview ..................................................................................................................................... 51 Video Recordings......................................................................................................................... 51 APPENDIX A. PHYSICIAN RESOURCES............................................................................................ 55 Overview ..................................................................................................................................... 55 NIH Guidelines ........................................................................................................................... 55 NIH Databases ............................................................................................................................ 57 Other Commercial Databases ...................................................................................................... 59 The Genome Project and Angelman Syndrome........................................................................... 59 APPENDIX B. PATIENT RESOURCES ................................................................................................ 63 Overview ..................................................................................................................................... 63 Patient Guideline Sources ........................................................................................................... 63 Finding Associations ................................................................................................................... 66 APPENDIX C. FINDING MEDICAL LIBRARIES ................................................................................. 69 Overview ..................................................................................................................................... 69 Preparation .................................................................................................................................. 69 Finding a Local Medical Library ................................................................................................. 69 Medical Libraries in the U.S. and Canada................................................................................... 69 ONLINE GLOSSARIES ................................................................................................................. 75 Online Dictionary Directories..................................................................................................... 75 ANGELMAN SYNDROME DICTIONARY............................................................................... 77 INDEX................................................................................................................................................ 92

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Angelman syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about Angelman syndrome, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to Angelman syndrome, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on Angelman syndrome. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to Angelman syndrome, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on Angelman syndrome. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON ANGELMAN SYNDROME Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Angelman syndrome.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and Angelman syndrome, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “Angelman syndrome” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: ·

Survey of Expressive Communication Skills in Children with Angelman Syndrome Source: American Journal of Speech-Language Pathology. 7(2): 14-24. May 1998. Summary: This article presents information on the expressive communication skills in children with Angelman syndrome (AS), a condition which results from partial deletion of the 15th chromosome and occurs in approximately 1 per 10,000 live births. Individuals with AS exhibit a pattern of developmental delays that includes feeding problems in infancy, delays in motor development, ataxic movements, seizures, severe to profound mental retardation, and a lack of expressive speech. In this article, the authors summarize the clinical research on AS, provide a description of the communication skills of individuals with AS, and identify strategies and resources for communication intervention. The authors begin by reviewing the existing literature on

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the clinical characteristics of individuals with AS, with an emphasis on communication skills. The second part of the article presents results obtained from a survey of 20 families of children with AS on the children's expressive communication skills. Of primary concern for many families, teachers, and speech language pathologists is the choice of communicative modality. There are many criteria to consider, including the individual's level of symbolic development, vision and motor skills, availability of communicative partners, and client and family preferences. One appendix reprints the survey instrument used with the families. 1 figure. 5 tables. 30 references. (AA-M).

Federally Funded Research on Angelman Syndrome The U.S. Government supports a variety of research studies relating to Angelman syndrome. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to Angelman syndrome. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore Angelman syndrome. The following is typical of the type of information found when searching the CRISP database for Angelman syndrome: ·

Project Title: FACILITATING THE DIAGNOSIS OF ANGELMAN SYNDROME Principal Investigator & Institution: Tiranoff, Louise;; Louise Tiranoff Production 488 14Th St New York, Ny 11215 Timing: Fiscal Year 2002; Project Start 4-FEB-1995; Project End 0-APR-2002 Summary: The Angelman Project is a comprehensive digital database of videos, text, and photographs, collected and designed to facilitate the diagnosis, treatment and education of individuals with Angelman Syndrome (AS) research, including genetics, neurology, and the study of language and behavior. Even with these advances, diagnosis and treatment are hampered by a lack of information on exiting Angelman patients. Current data on AS individuals is needed to illustrate the main features of their appearance, as well as the essential aspects of their behaviors and abilities. The comprehensive collection of data contained in The Angelman Project provides a resource for medical professionals, scientists, educators, and therapists. For example, physical therapists can observe models of patient therapy practiced in other parts of the world. Educators can use video footage of various inclusion settings to help develop and shape individualized education plans. Geneticists can examine the information from this database to find possible genotype/phenotype correlations. This database provides information to help make more timely diagnoses; offers information on therapies and treatments; and furnishes raw data that may inspire future AS research

Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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projects. PROPOSED COMMERCIAL APPLICATION: The intended market for this work includes all professionals working with Angelman syndrome patients pediatricians, internists and general practitioners, genetics counselors, neurologists, psychologists, physical therapists, & nurses. The work should be a valuable resource for researchers in genetics, neurology and other related areas. Finally, educators and education evaluations, and teachers working with AS individuals and others with related disorders, will find this work an excellent reference. Future commercial Phase III applications exist in the expansion of this project to include many other genetic disorders. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “Angelman syndrome” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for Angelman syndrome in the PubMed Central database: ·

A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for PraderWilli and Angelman Syndromes. by Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B. 1992 Jun 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=49311

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. by Gabriel JM, Merchant M, Ohta T, Ji Y, Caldwell RG, Ramsey MJ, Tucker JD, Longnecker R, Nicholls RD. 1999 Aug 3; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=17767

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Clonal heterogeneity at allelic methylation sites diagnostic for Prader --Willi and Angelman syndromes. by LaSalle JM, Ritchie RJ, Glatt H, Lalande M. 1998 Feb 17; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=19144

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The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily. by Nawaz Z, Lonard DM, Smith CL, Lev-Lehman E, Tsai SY, Tsai MJ, O'Malley BW. 1999 Feb; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=exter nal&artid=116047

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html. With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print. 3 4

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The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with Angelman syndrome, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. ·

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Author(s): Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B. Source: Human Genetics. 1999 December; 105(6): 665-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10647904&dopt=Abstract

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A candidate model for Angelman syndrome in the mouse. Author(s): Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J. Source: Mammalian Genome : Official Journal of the International Mammalian Genome Society. 1997 July; 8(7): 472-8. Erratum In: Mamm Genome 1997; 8(11): 877. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9195990&dopt=Abstract

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A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. Author(s): Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J. Source: Acta Genet Med Gemellol (Roma). 1996; 45(1-2): 255-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8872042&dopt=Abstract

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A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. Author(s): Summers JA, Lynch PS, Harris JC, Burke JC, Allison DB, Sandler L. Source: Journal of Developmental and Behavioral Pediatrics : Jdbp. 1992 August; 13(4): 284-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1506469&dopt=Abstract

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A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. Author(s): Fridman C, Santos M, Ferrari I, Koiffmann CP.

PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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Source: Clinical Genetics. 2000 January; 57(1): 86-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10733242&dopt=Abstract ·

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Author(s): De Molfetta GA, Felix TM, Riegel M, Ferraz VE, de Pina Neto JM. Source: Arquivos De Neuro-Psiquiatria. 2002 December; 60(4): 1011-4. Epub 2003 January 15. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12563398&dopt=Abstract

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A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome. Author(s): Kennerknecht I. Source: Human Genetics. 1992 September-October; 90(1-2): 91-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1427794&dopt=Abstract

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A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Author(s): Meguro M, Kashiwagi A, Mitsuya K, Nakao M, Kondo I, Saitoh S, Oshimura M. Source: Nature Genetics. 2001 May; 28(1): 19-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11326269&dopt=Abstract

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A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction. Author(s): Roberts S, Maggouta F, Thompson R, Price S, Thomas S. Source: Journal of Medical Genetics. 2002 February; 39(2): E9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11836378&dopt=Abstract

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A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Author(s): Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B. Source: European Journal of Human Genetics : Ejhg. 1999 September; 7(6): 638-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10482951&dopt=Abstract

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Adjunct diagnostic test for Angelman syndrome: the tuning fork response. Author(s): Hall BD, Cadle RG. Source: American Journal of Medical Genetics. 2002 November 1; 112(4): 429. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12376950&dopt=Abstract

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Adjunct diagnostic test for Angelman syndrome: the tuning fork response. Author(s): Hall BD.

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Source: American Journal of Medical Genetics. 2002 May 1; 109(3): 238-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11977186&dopt=Abstract ·

Adverse effects of vigabatrin in Angelman syndrome. Author(s): Kuenzle C, Steinlin M, Wohlrab G, Boltshauser E, Schmitt B. Source: Epilepsia. 1998 November; 39(11): 1213-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9821987&dopt=Abstract

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Alpha-fetoprotein in Angelman syndrome. Author(s): Clayton-Smith J. Source: Developmental Medicine and Child Neurology. 1991 February; 33(2): 182-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1707838&dopt=Abstract

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An Angelman syndrome clinic: report on 24 patients. Author(s): Leitner RP, Smith A. Source: Journal of Paediatrics and Child Health. 1996 April; 32(2): 94-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8860380&dopt=Abstract

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An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. Author(s): Kokkonen H, Leisti J. Source: Human Genetics. 2000 July; 107(1): 83-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10982040&dopt=Abstract

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Angelman syndrome and vermian cyst. Author(s): Incorpora G, Cocuzza M, Mattina T. Source: American Journal of Medical Genetics. 1994 August 15; 52(2): 246-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7802023&dopt=Abstract

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Angelman syndrome assessed by neurological and molecular cytogenetic investigations. Author(s): Hou JW, Wang PJ, Wang TR. Source: Pediatric Neurology. 1997 January; 16(1): 17-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9044396&dopt=Abstract

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Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Author(s): Buxton JL, Chan CT, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S. Source: Human Molecular Genetics. 1994 August; 3(8): 1409-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7987324&dopt=Abstract

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Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Author(s): Greger V, Knoll JH, Wagstaff J, Woolf E, Lieske P, Glatt H, Benn PA, Rosengren SS, Lalande M. Source: American Journal of Human Genetics. 1997 March; 60(3): 574-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9042916&dopt=Abstract

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Angelman syndrome at an older age. Author(s): Reish O, King RA. Source: American Journal of Medical Genetics. 1995 July 3; 57(3): 510-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7677166&dopt=Abstract

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Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. Author(s): Arrieta I, Criado B, Nunez T, Telez M, Echarri A, Martinez B, Castedo S. Source: Psychiatric Genetics. 1997 Winter; 7(4): 153-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9460799&dopt=Abstract

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Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Author(s): Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A. Source: American Journal of Medical Genetics. 1994 May 15; 51(1): 35-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8030667&dopt=Abstract

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Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. Author(s): Williams CA, Hendrickson JE, Cantu ES, Donlon TA. Source: American Journal of Medical Genetics. 1989 March; 32(3): 333-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2729353&dopt=Abstract

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Angelman syndrome in adulthood. Author(s): Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Source: American Journal of Medical Genetics. 1996 December 18; 66(3): 356-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9072912&dopt=Abstract

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Angelman syndrome in an inbred family. Author(s): Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Source: Human Genetics. 1996 March; 97(3): 294-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8786067&dopt=Abstract

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Angelman syndrome in three adult patients with atypical presentation and severe neurological complications.

10 Angelman Syndrome

Author(s): Van Buggenhout GJ, Descheemaeker MJ, Thiry P, Trommelen JC, Hamel BC, Fryns JP. Source: Genet Couns. 2000; 11(4): 363-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11140414&dopt=Abstract ·

Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities. Author(s): Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J, Niikawa N. Source: Epilepsia. 1992 November-December; 33(6): 1078-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1464267&dopt=Abstract

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Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. Author(s): Sugimoto T, Araki A, Yasuhara A, Woo M, Nishida N, Sasaki T. Source: Jpn J Psychiatry Neurol. 1994 June; 48(2): 271-3. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7807743&dopt=Abstract

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Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. Author(s): Aquino NH, Bastos E, Fonseca LC, Llerena JC Jr. Source: Genetic Testing. 2002 Summer; 6(2): 129-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12215253&dopt=Abstract

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Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. Author(s): Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Source: Journal of Medical Genetics. 2001 April; 38(4): 224-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11283202&dopt=Abstract

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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. Author(s): Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. Source: Journal of Medical Genetics. 1999 July; 36(7): 554-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10424818&dopt=Abstract

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Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. Author(s): Webb T, Clayton-Smith J, Cheng XJ, Knoll JH, Lalande M, Pembrey ME, Malcolm S. Source: Journal of Medical Genetics. 1992 December; 29(12): 921-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1362225&dopt=Abstract

Studies 11

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Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Author(s): Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen MB. Source: Clinical Genetics. 1999 June; 55(6): 483-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10450868&dopt=Abstract

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Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. Author(s): Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Source: American Journal of Medical Genetics. 1998 March 19; 76(3): 262-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9508247&dopt=Abstract

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Angelman syndrome. Author(s): Schneider BB, Maino DM. Source: J Am Optom Assoc. 1993 July; 64(7): 502-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8376719&dopt=Abstract

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Angelman syndrome. Author(s): Henderson HP. Source: British Journal of Plastic Surgery. 1993 March; 46(2): 175-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8461912&dopt=Abstract

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Angelman syndrome. Author(s): Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Source: Curr Probl Pediatr. 1995 August; 25(7): 216-31. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8521718&dopt=Abstract

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Angelman syndrome: a review of clinical and genetic aspects. Author(s): Laan LA, v Haeringen A, Brouwer OF. Source: Clinical Neurology and Neurosurgery. 1999 September; 101(3): 161-70. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10536901&dopt=Abstract

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Angelman syndrome: a review of the clinical and genetic aspects. Author(s): Clayton-Smith J, Laan L. Source: Journal of Medical Genetics. 2003 February; 40(2): 87-95. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12566516&dopt=Abstract

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Angelman syndrome: are the estimates too low? Author(s): Buckley RH, Dinno N, Weber P.


Source: American Journal of Medical Genetics. 1998 December 4; 80(4): 385-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9856568&dopt=Abstract ·

Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. Author(s): van den Ouweland AM, Bakker PL, Halley DJ, Catsman-Berrevoets CE. Source: Journal of Medical Genetics. 1999 September; 36(9): 723-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10507736&dopt=Abstract

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Angelman syndrome: clinical profile. Author(s): Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Source: Journal of Child Neurology. 1992 July; 7(3): 270-80. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1634750&dopt=Abstract

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Angelman syndrome: consensus for diagnostic criteria.Angelman Syndrome Foundation. Author(s): Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Source: American Journal of Medical Genetics. 1995 March 27; 56(2): 237-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7625452&dopt=Abstract

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Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Author(s): Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV. Source: Annals of Neurology. 1998 April; 43(4): 485-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9546330&dopt=Abstract

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Angelman syndrome: evolution of the phenotype in adolescents and adults. Author(s): Smith JC. Source: Developmental Medicine and Child Neurology. 2001 July; 43(7): 476-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11463179&dopt=Abstract

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Angelman syndrome: how many genes to remain silent? Author(s): Rougeulle C, Lalande M. Source: Neurogenetics. 1998 August; 1(4): 229-37. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10732796&dopt=Abstract

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Angelman syndrome: mimicking conditions and phenotypes. Author(s): Williams CA, Lossie A, Driscoll D; R.C. Phillips Unit. Source: American Journal of Medical Genetics. 2001 June 1; 101(1): 59-64. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11343340&dopt=Abstract

Studies 13

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Angelman syndrome: three molecular classes identified with chromosome 15q11q13specific DNA markers. Author(s): Knoll JH, Nicholls RD, Magenis RE, Glatt K, Graham JM Jr, Kaplan L, Lalande M. Source: American Journal of Human Genetics. 1990 July; 47(1): 149-55. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1971993&dopt=Abstract

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Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. Author(s): White L, Knoll JH. Source: American Journal of Medical Genetics. 1995 March 13; 56(1): 101-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7747771&dopt=Abstract

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Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Author(s): Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K. Source: American Journal of Human Genetics. 2003 January; 72(1): 218-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12549484&dopt=Abstract

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Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15. Author(s): Dan B, Boyd SG, Christiaens F, Courtens W, Van Maldergem L, Kahn A. Source: Neuropediatrics. 2000 April; 31(2): 109-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10832589&dopt=Abstract

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Atypical molecular findings identify limits of technical screening tests for PraderWilli and Angelman syndrome diagnoses. Author(s): Malzac P, Moncla A, Pedeillier K, Vo Van C, Girardot L, Voelckel MA. Source: American Journal of Medical Genetics. 1998 July 7; 78(3): 242-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9677058&dopt=Abstract

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Autism in Angelman syndrome: a population-based study. Author(s): Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Source: Pediatric Neurology. 1996 February; 14(2): 131-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8703225&dopt=Abstract

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Automatico-voluntary dissociation in Angelman syndrome. Author(s): Dan B, Christiaens F, Cheron G. Source: Brain & Development. 2000 March; 22(2): 139. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10819698&dopt=Abstract


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Behaviour problems in Angelman syndrome. Author(s): Summers JA, Allison DB, Lynch PS, Sandler L. Source: Journal of Intellectual Disability Research : Jidr. 1995 April; 39 ( Pt 2): 97-106. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7787388&dopt=Abstract

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Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. Author(s): Battaglia A, Gurrieri F. Source: American Journal of Medical Genetics. 1999 January 1; 82(1): 100. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9916855&dopt=Abstract

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Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Author(s): Engel E. Source: American Journal of Human Genetics. 1991 August; 49(2): 459-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1867202&dopt=Abstract

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Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Author(s): Knoll JH, Glatt KA, Nicholls RD, Malcolm S, Lalande M. Source: American Journal of Human Genetics. 1991 January; 48(1): 16-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1985457&dopt=Abstract

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Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation. Author(s): Saitoh S, Wada T, Kuno T, Kim KC, Ohashi H, Hashimoto K, Niikawa N. Source: Clinical Genetics. 1999 April; 55(4): 277-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10361990&dopt=Abstract

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Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. Author(s): Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Source: Journal of Medical Genetics. 1996 February; 33(2): 107-12. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8929945&dopt=Abstract

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Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. Author(s): Smith A, Marks R, Haan E, Dixon J, Trent RJ. Source: Journal of Medical Genetics. 1997 May; 34(5): 426-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9152844&dopt=Abstract

Studies 15

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Clinical profile of Angelman syndrome at different ages. Author(s): Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP. Source: American Journal of Medical Genetics. 1995 March 27; 56(2): 176-83. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7625442&dopt=Abstract

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Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Author(s): Clayton-Smith J. Source: American Journal of Medical Genetics. 1993 April 1; 46(1): 12-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7684188&dopt=Abstract

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Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Author(s): Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. Source: American Journal of Medical Genetics. 1995 June 19; 60(3): 261-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7573182&dopt=Abstract

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Clinical, cytogenetical and molecular analyses of Angelman syndrome. Author(s): Molfetta GA, Silva-Jr WA, Pina-Neto JM. Source: Genet Couns. 2003; 14(1): 45-56. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12725589&dopt=Abstract

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Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Author(s): Greger V, Woolf E, Lalande M. Source: Human Molecular Genetics. 1993 July; 2(7): 921-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8364575&dopt=Abstract

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Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. Author(s): Duker PC, van Driel S, van de Bercken J. Source: Journal of Intellectual Disability Research : Jidr. 2002 January; 46(Pt 1): 35-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11851854&dopt=Abstract

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Communication, cognition, and social interaction in the Angelman syndrome. Author(s): Penner KA, Johnston J, Faircloth BH, Irish P, Williams CA. Source: American Journal of Medical Genetics. 1993 April 1; 46(1): 34-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8494032&dopt=Abstract

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Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and


Angelman syndrome. Author(s): Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA. Source: American Journal of Medical Genetics. 1994 August 1; 52(1): 85-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7977469&dopt=Abstract ·

Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. Author(s): Poyatos D, Coll MD, Guitart M, Colomer J. Source: European Journal of Pediatrics. 1999 December; 158(12): 1006. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10592081&dopt=Abstract

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Cortical myoclonus in Angelman syndrome. Author(s): Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM. Source: Annals of Neurology. 1996 July; 40(1): 39-48. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8687190&dopt=Abstract

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Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. Author(s): Gilbert HL, Buxton JL, Chan CT, McKay T, Cottrell S, Ramsden S, Winter RM, Pembrey ME, Malcolm S. Source: Journal of Medical Genetics. 1997 August; 34(8): 651-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9279757&dopt=Abstract

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Cytogenetic and molecular analysis in Angelman syndrome. Author(s): Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA. Source: American Journal of Medical Genetics. 1993 April 1; 46(1): 7-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8098583&dopt=Abstract

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Cytogenetic and molecular study of Angelman syndrome. Author(s): Imaizumi K, Takada F, Kuroki Y, Naritomi K, Hamabe J, Niikawa N. Source: American Journal of Medical Genetics. 1990 March; 35(3): 314-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2309778&dopt=Abstract

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Author(s): Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. Source: Nature Genetics. 1997 January; 15(1): 74-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8988172&dopt=Abstract

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Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. Author(s): Odano I, Anezaki T, Ohkubo M, Yonekura Y, Onishi Y, Inuzuka T, Takahashi M, Tsuji S. Source: European Journal of Nuclear Medicine. 1996 May; 23(5): 598-604. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8698070&dopt=Abstract

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Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Author(s): Michaelis RC, Skinner SA, Lethco BA, Simensen RJ, Donlon TA, Tarleton J, Phelan MC. Source: American Journal of Medical Genetics. 1995 January 2; 55(1): 120-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7702085&dopt=Abstract

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Deletion of 15q12 in Angelman syndrome: report of 3 new cases. Author(s): Tonk V, Wyandt HE, Michand L, Milunsky A. Source: Clinical Genetics. 1992 November; 42(5): 229-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1486699&dopt=Abstract

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Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry. Author(s): Cooke A, Tolmie JL, Glencross FJ, Boyd E, Clarke MM, Day R, Stephenson JB, Connor JM. Source: American Journal of Medical Genetics. 1989 April; 32(4): 545-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2774001&dopt=Abstract

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Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. Author(s): Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ. Source: American Journal of Medical Genetics. 1996 May 17; 63(2): 414-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8725798&dopt=Abstract

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Diagnosis of Angelman syndrome in infants. Author(s): Fryburg JS, Breg WR, Lindgren V. Source: American Journal of Medical Genetics. 1991 January; 38(1): 58-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2012134&dopt=Abstract

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Diagnosis of Angelman syndrome: clinical and EEG criteria. Author(s): Buoni S, Grosso S, Pucci L, Fois A. Source: Brain & Development. 1999 July; 21(5): 296-302. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10413015&dopt=Abstract


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Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. Author(s): Monaghan KG, Wiktor A, Van Dyke DL. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2002 November-December; 4(6): 448-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12509717&dopt=Abstract

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Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Author(s): Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD. Source: American Journal of Medical Genetics. 1993 October 1; 47(5): 683-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8266996&dopt=Abstract

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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Author(s): Burger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A. Source: American Journal of Human Genetics. 1997 July; 61(1): 88-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9245988&dopt=Abstract

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Disruption of the bipartite imprinting center in a family with Angelman syndrome. Author(s): Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B. Source: American Journal of Human Genetics. 2001 May; 68(5): 1290-4. Epub 2001 March 23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11283796&dopt=Abstract

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Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome. Author(s): Dan B, Bouillot E, Bengoetxea A, Boyd SG, Cheron G. Source: Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. 2001 September; 112(9): 1618-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11514244&dopt=Abstract

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Author(s): Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Source: Journal of Medical Genetics. 2001 December; 38(12): 834-45. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11748306&dopt=Abstract

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Distinctive pattern of behavioral functioning in Angelman syndrome. Author(s): Summers JA, Feldman MA.

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Source: Am J Ment Retard. 1999 July; 104(4): 376-84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10450464&dopt=Abstract ·

DNA deletion and its parental origin in Angelman syndrome patients. Author(s): Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N. Source: American Journal of Medical Genetics. 1991 October 1; 41(1): 64-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1683160&dopt=Abstract

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DNA methylation pattern in Angelman syndrome. Author(s): Stefanova M. Source: Folia Med (Plovdiv). 1995; 37(4A Suppl): 67. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8655072&dopt=Abstract

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Drowning as a cause of death in Angelman syndrome. Author(s): Ishmael HA, Begleiter ML, Butler MG. Source: Am J Ment Retard. 2002 January; 107(1): 69-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11806751&dopt=Abstract

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Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. Author(s): Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Source: Journal of Medical Genetics. 1993 June; 30(6): 529-31. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8326502&dopt=Abstract

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EEG--a valuable tool in early diagnosis of Angelman syndrome. Author(s): Sue CC, Kuo PL, Tsai LP. Source: Acta Paediatr Taiwan. 1999 November-December; 40(6): 434-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10927959&dopt=Abstract

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Effects of a low dose of melatonin on sleep in children with Angelman syndrome. Author(s): Zhdanova IV, Wurtman RJ, Wagstaff J. Source: J Pediatr Endocrinol Metab. 1999 January-February; 12(1): 57-67. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10392349&dopt=Abstract

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Effects of environmental events on smiling and laughing behavior in Angelman syndrome. Author(s): Oliver C, Demetriades L, Hall S. Source: Am J Ment Retard. 2002 May; 107(3): 194-200. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11966332&dopt=Abstract


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Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience. Author(s): Ostergaard JR, Balslev T. Source: Developmental Medicine and Child Neurology. 2001 October; 43(10): 718-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11665831&dopt=Abstract

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Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. Author(s): Casara GL, Vecchi M, Boniver C, Drigo P, Baccichetti C, Artifoni L, Franzoni E, Marchiani V. Source: Brain & Development. 1995 January-February; 17(1): 64-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7762767&dopt=Abstract

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Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. Author(s): Ebert MH, Schmidt DE, Thompson T, Butler MG. Source: The Journal of Neuropsychiatry and Clinical Neurosciences. 1997 Winter; 9(1): 75-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9017532&dopt=Abstract

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Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Author(s): Matsumoto A, Kumagai T, Miura K, Miyazaki S, Hayakawa C, Yamanaka T. Source: Epilepsia. 1992 November-December; 33(6): 1083-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1464268&dopt=Abstract

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Evolution of epilepsy and EEG findings in Angelman syndrome. Author(s): Laan LA, Renier WO, Arts WF, Buntinx IM, vd Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF. Source: Epilepsia. 1997 February; 38(2): 195-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9048672&dopt=Abstract

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Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect. Author(s): Brockmann K, Bohm R, Burger J. Source: Journal of Medical Genetics. 2002 September; 39(9): E51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12205121&dopt=Abstract

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Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Author(s): Saitoh S, Kubota T, Ohta T, Jinno Y, Niikawa N, Sugimoto T, Wagstaff J, Lalande M. Source: Lancet. 1992 February 8; 339(8789): 366-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1346439&dopt=Abstract

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Familial Angelman syndrome with a crossover in the critical deletion region. Author(s): Nelen MR, Van der Burgt CJ, Nillesen WN, Vis A, Smeets HJ. Source: American Journal of Medical Genetics. 1994 September 1; 52(3): 352-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7810569&dopt=Abstract

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Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene? Author(s): Burke LW, Wiley JE, Glenn CC, Driscoll DJ, Loud KM, Smith AJ, Kushnick T. Source: American Journal of Human Genetics. 1996 April; 58(4): 777-84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8644742&dopt=Abstract

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Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Author(s): Burger J, Horn D, Tonnies H, Neitzel H, Reis A. Source: American Journal of Medical Genetics. 2002 August 15; 111(3): 233-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12210318&dopt=Abstract

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Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. Author(s): Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland A, Buiting K, Lich C, Mollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G. Source: Journal of Medical Genetics. 1996 October; 33(10): 848-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8933339&dopt=Abstract

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Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Author(s): Smith A, Deng ZM, Beran R, Woodage T, Trent RJ. Source: Human Genetics. 1994 April; 93(4): 471-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8168819&dopt=Abstract

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Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Author(s): Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K. Source: Acta Paediatrica (Oslo, Norway : 1992). 2001 April; 90(4): 455-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11332942&dopt=Abstract

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FISH analysis in Prader-Willi and Angelman syndrome patients. Author(s): Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L. Source: American Journal of Medical Genetics. 1995 March 27; 56(2): 224-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7625450&dopt=Abstract


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Fishing out the Angelman syndrome gene. Author(s): Donlon T. Source: Nature Medicine. 1997 March; 3(3): 281. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9055853&dopt=Abstract

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Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. Author(s): Tekin M, Jackson-Cook C, Buller A, Ferreira-Gonzalez A, Pandya A, Garrett CT, Bodurtha J. Source: American Journal of Medical Genetics. 2000 November 13; 95(2): 145-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11078565&dopt=Abstract

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Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. Author(s): Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S. Source: American Journal of Medical Genetics. 1992 September 15; 44(2): 256-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1360768&dopt=Abstract

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Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Author(s): Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B. Source: American Journal of Medical Genetics. 1995 April 10; 56(3): 328-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7778602&dopt=Abstract

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GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. Author(s): DeLorey TM, Olsen RW. Source: Epilepsy Research. 1999 September; 36(2-3): 123-32. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10515160&dopt=Abstract

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Genetic counseling in Angelman syndrome: gonadal mosaicism. Author(s): Stalker HJ, Williams CA, Wagstaff J. Source: American Journal of Medical Genetics. 1998 August 6; 78(5): 482. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9714017&dopt=Abstract

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Genetic counseling in Angelman syndrome: the challenges of multiple causes. Author(s): Stalker HJ, Williams CA. Source: American Journal of Medical Genetics. 1998 April 28; 77(1): 54-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9557895&dopt=Abstract

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Genetics of Angelman syndrome. Author(s): Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL.

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Source: American Journal of Human Genetics. 1999 July; 65(1): 1-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10364509&dopt=Abstract ·

Genetics of childhood disorders: XVI. Angelman syndrome: a failure to process. Author(s): Lombroso PJ. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 2000 July; 39(7): 931-3. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10892237&dopt=Abstract

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Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. Author(s): Prasad C, Wagstaff J. Source: American Journal of Medical Genetics. 1997 June 13; 70(3): 328-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9188675&dopt=Abstract

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High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. Author(s): Butler MG. Source: American Journal of Medical Genetics. 1995 May 8; 56(4): 420-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7604853&dopt=Abstract

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High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. Author(s): Sugiura C, Ogura K, Ueno M, Toyoshima M, Oka A. Source: Neurology. 2001 October 23; 57(8): 1518-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11673606&dopt=Abstract

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High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Author(s): Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness EJ, Lalande M. Source: American Journal of Human Genetics. 1993 June; 52(6): 1216-29. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8389098&dopt=Abstract

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Hypopigmentation in Angelman syndrome. Author(s): King RA, Wiesner GL, Townsend D, White JG. Source: American Journal of Medical Genetics. 1993 April 1; 46(1): 40-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8494033&dopt=Abstract

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Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Author(s): Lee S, Wevrick R.


Source: American Journal of Human Genetics. 2000 March; 66(3): 848-58. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10712201&dopt=Abstract ·

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Author(s): Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Source: Nature Genetics. 1997 September; 17(1): 75-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9288101&dopt=Abstract

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Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Author(s): Vu TH, Hoffman AR. Source: Nature Genetics. 1997 September; 17(1): 12-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9288087&dopt=Abstract

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Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Author(s): Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES. Source: American Journal of Medical Genetics. 1989 March; 32(3): 339-45. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2786338&dopt=Abstract

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Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family. Author(s): Webb T, Malcolm S, Pembrey ME, Clayton-Smith J. Source: Genet Couns. 1993; 4(1): 1-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8471216&dopt=Abstract

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Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype. Author(s): Innes AM, Chudley AE, Carson NL, Dawson AJ. Source: Clinical Genetics. 1999 September; 56(3): 238-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10563486&dopt=Abstract

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Is Angelman syndrome an alternate result of del(15)(q11q13)? Author(s): Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Source: American Journal of Medical Genetics. 1987 December; 28(4): 829-38. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3688021&dopt=Abstract

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Late-treated phenylketonuria mimicking Angelman syndrome. Author(s): Dan B, Christiaens F, Mewasingh LD, De Laet C, Goyens P. Source: American Journal of Medical Genetics. 2001 December 15; 104(4): 345-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11754074&dopt=Abstract

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Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children. Author(s): Andersen WH, Rasmussen RK, Stromme P. Source: Logopedics, Phoniatrics, Vocology. 2001; 26(1): 2-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11432411&dopt=Abstract

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Levodopa responsive Parkinsonism in adults with Angelman Syndrome. Author(s): Harbord M. Source: Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 2001 September; 8(5): 421-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11535008&dopt=Abstract

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Linkage analysis in familial Angelman syndrome. Author(s): Wagstaff J, Shugart YY, Lalande M. Source: American Journal of Human Genetics. 1993 July; 53(1): 105-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8317476&dopt=Abstract

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Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. Author(s): Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Source: Journal of Medical Genetics. 1992 December; 29(12): 853-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1362220&dopt=Abstract

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Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Author(s): Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Source: Genomics. 2001 September; 77(1-2): 105-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11543639&dopt=Abstract

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Manifestations in institutionalised adults with Angelman syndrome due to deletion. Author(s): Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. Source: American Journal of Medical Genetics. 1997 June 27; 70(4): 415-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9182785&dopt=Abstract

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Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Author(s): Wagstaff J, Knoll JH, Glatt KA, Shugart YY, Sommer A, Lalande M. Source: Nature Genetics. 1992 July; 1(4): 291-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1338769&dopt=Abstract


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Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Author(s): Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H. Source: American Journal of Medical Genetics. 1990 March; 35(3): 350-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2309781&dopt=Abstract

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Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. Author(s): Smith JC, Webb T, Pembrey ME, Nichols M, Malcolm S. Source: Human Genetics. 1992 February; 88(4): 376-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1740313&dopt=Abstract

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Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. Author(s): Stoll C, Alembik Y, Dott B, Fischbach M, Chognot D. Source: Genet Couns. 1993; 4(2): 153-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8357566&dopt=Abstract

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Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. Author(s): Muralidhar B, Butler MG. Source: American Journal of Medical Genetics. 1998 November 16; 80(3): 263-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9843050&dopt=Abstract

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Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. Author(s): Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS. Source: American Journal of Medical Genetics. 1998 May 18; 77(3): 198-200. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9605586&dopt=Abstract

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Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. Author(s): DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, Asatourian A, Fanselow MS, Delgado-Escueta A, Ellison GD, Olsen RW. Source: The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. 1998 October 15; 18(20): 8505-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9763493&dopt=Abstract

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Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome. Author(s): Buchholz T, Schuffenhauer S, Evans K, Robson L, Appleton B, Smith A. Source: Acta Genet Med Gemellol (Roma). 1996; 45(1-2): 217-20. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8872034&dopt=Abstract

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Molecular and clinical study of 61 Angelman syndrome patients. Author(s): Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, et al. Source: American Journal of Medical Genetics. 1994 August 15; 52(2): 158-63. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7802001&dopt=Abstract

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Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Author(s): Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A, Ledbetter DH. Source: American Journal of Human Genetics. 1995 July; 57(1): 40-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7611294&dopt=Abstract

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Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Author(s): Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD. Source: American Journal of Human Genetics. 1999 February; 64(2): 385-96. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9973277&dopt=Abstract

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Molecular mechanisms in Angelman syndrome: a survey of 93 patients. Author(s): Chan CT, Clayton-Smith J, Cheng XJ, Buxton J, Webb T, Pembrey ME, Malcolm S. Source: Journal of Medical Genetics. 1993 November; 30(11): 895-902. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7905534&dopt=Abstract

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Molecular study of chromosome 15 in 22 patients with Angelman syndrome. Author(s): Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RC, Van Broeckhoven C, Willems PJ. Source: Human Genetics. 1993 January; 90(5): 489-95. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8094063&dopt=Abstract

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Mutation analysis of UBE3A in Angelman syndrome patients. Author(s): Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Source: American Journal of Human Genetics. 1998 June; 62(6): 1353-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9585605&dopt=Abstract

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No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. Author(s): de Vries BB, Tyson J, Winter RM, Malcolm S.


Source: American Journal of Medical Genetics. 2002 April 22; 109(2): 117-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11977159&dopt=Abstract ·

Normal growth in Angelman syndrome due to paternal UPD. Author(s): Smith A, Robson L, Buchholz B. Source: Clinical Genetics. 1998 March; 53(3): 223-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9630080&dopt=Abstract

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Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome. Author(s): Russo S, Cogliati F, Viri M, Cavalleri F, Selicorni A, Turolla L, Belli S, Romeo A, Larizza L. Source: Human Mutation. 2000 April; 15(4): 387. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10737998&dopt=Abstract

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Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome. Author(s): Deng ZM, Woodage T, Smart R, Smith A, Trent RJ. Source: The Medical Journal of Australia. 1993 June 21; 158(12): 813-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8326891&dopt=Abstract

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Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. Author(s): Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K. Source: Journal of Medical Genetics. 2000 May; 37(5): 392-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10905897&dopt=Abstract

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On the genetic imprinting suggested in Angelman syndrome. Author(s): Naritomi K. Source: American Journal of Medical Genetics. 1991 June 15; 39(4): 495-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1877632&dopt=Abstract

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On the parental origin of the deletion in Angelman syndrome. Author(s): Knoll JH, Nicholls RD, Lalande M. Source: Human Genetics. 1989 September; 83(2): 205-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2777263&dopt=Abstract

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On the prevalence of Angelman syndrome. Author(s): Kyllerman M.

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Source: American Journal of Medical Genetics. 1995 November 20; 59(3): 405; Author Reply 403-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8599374&dopt=Abstract ·

Ophthalmic manifestations of Angelman syndrome. Author(s): Mah ML, Wallace DK, Powell CM. Source: J Aapos. 2000 August; 4(4): 248-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10951304&dopt=Abstract

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Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome. Author(s): Fridman C, Koiffmann CP. Source: American Journal of Medical Genetics. 2000 September 18; 94(3): 249-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10995513&dopt=Abstract

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Parental imprinting and Angelman syndrome. Author(s): Lalande M, Minassian BA, DeLorey TM, Olsen RW. Source: Adv Neurol. 1999; 79: 421-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10514831&dopt=Abstract

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Parental view of epilepsy in Angelman syndrome: a questionnaire study. Author(s): Ruggieri M, McShane MA. Source: Archives of Disease in Childhood. 1998 November; 79(5): 423-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10193256&dopt=Abstract

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Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells. Author(s): Hall JG. Source: American Journal of Medical Genetics. 1990 July; 36(3): 369-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2363443&dopt=Abstract

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Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. Author(s): Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ. Source: American Journal of Medical Genetics. 1993 March 1; 45(5): 625-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8456836&dopt=Abstract

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Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Author(s): Nicholls RD, Pai GS, Gottlieb W, Cantu ES. Source: Annals of Neurology. 1992 October; 32(4): 512-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1360787&dopt=Abstract


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Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. Author(s): Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP. Source: American Journal of Medical Genetics. 2000 June 19; 92(5): 322-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10861661&dopt=Abstract

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Phenotype in patients with Angelman syndrome. Author(s): Dan B. Source: European Journal of Human Genetics : Ejhg. 2000 April; 8(4): 241. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10854104&dopt=Abstract

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Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Author(s): Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO. Source: European Journal of Human Genetics : Ejhg. 1999 February-March; 7(2): 131-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10196695&dopt=Abstract

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Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Author(s): Burger J, Kunze J, Sperling K, Reis A. Source: American Journal of Medical Genetics. 1996 December 11; 66(2): 221-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8958335&dopt=Abstract

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Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. Author(s): Woodage T, Lindeman R, Deng ZM, Fimmel A, Smith A, Trent RJ. Source: Genomics. 1994 January 1; 19(1): 170-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8188222&dopt=Abstract

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Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis. Author(s): Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Noseda G, Ponsot G. Source: American Journal of Medical Genetics. 1998 December 28; 80(5): 543-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9880230&dopt=Abstract

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Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin? Author(s): Schinzel A, Robinson WP, Bottani A, Yagang X, Prader A. Source: Human Genetics. 1992 January; 88(3): 361-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1733842&dopt=Abstract

Studies 31

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Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. Author(s): Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA. Source: The New England Journal of Medicine. 1992 March 19; 326(12): 807-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1538725&dopt=Abstract

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Precocious puberty in a case with probable Angelman syndrome. Author(s): Young C, Wang PJ, Tsai WY, Shen YZ. Source: Brain & Development. 1994 May-June; 16(3): 249-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7943614&dopt=Abstract

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Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. Author(s): Tsai TF, Raas-Rothschild A, Ben-Neriah Z, Beaudet AL. Source: American Journal of Human Genetics. 1998 November; 63(5): 1561-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9792887&dopt=Abstract

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Problem behaviors associated with 15q- Angelman syndrome. Author(s): Clarke DJ, Marston G. Source: Am J Ment Retard. 2000 January; 105(1): 25-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10683706&dopt=Abstract

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Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome. Author(s): van den Borne HW, van Hooren RH, van Gestel M, Rienmeijer P, Fryns JP, Curfs LM. Source: Patient Education and Counseling. 1999 November; 38(3): 205-16. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10865686&dopt=Abstract

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Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome. Author(s): Nicholls RD. Source: Human Molecular Genetics. 1994 January; 3(1): 9-11. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8162058&dopt=Abstract

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Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction. Author(s): Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL. Source: J Formos Med Assoc. 2002 July; 101(7): 488-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12353341&dopt=Abstract


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Regional cerebral blood flow in Angelman syndrome. Author(s): Gucuyener K, Gokcora N, Ilgin N, Buyan N, Sayli A. Source: European Journal of Nuclear Medicine. 1993 July; 20(7): 645-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8370386&dopt=Abstract

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Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. Author(s): Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J. Source: Journal of Child Neurology. 1998 September; 13(9): 448-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9733292&dopt=Abstract

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Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. Author(s): Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN. Source: American Journal of Medical Genetics. 1996 December 30; 66(4): 426-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989460&dopt=Abstract

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Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. Author(s): Baumer A, Balmer D, Schinzel A. Source: Human Genetics. 1999 December; 105(6): 598-602. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10647895&dopt=Abstract

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Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. Author(s): Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD. Source: Journal of Medical Genetics. 2002 February; 39(2): E4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11836373&dopt=Abstract

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Split-cord malformation in a girl with Angelman syndrome: a mere coincidence? Author(s): Mastroyianni SD, Kontopoulos E. Source: American Journal of Medical Genetics. 2002 July 22; 111(1): 57-60. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12124736&dopt=Abstract

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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Author(s): Buiting K, Dittrich B, Gross S, Lich C, Farber C, Buchholz T, Smith E, Reis A, Burger J, Nothen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Horsthemke B, et al. Source: American Journal of Human Genetics. 1998 July; 63(1): 170-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9634532&dopt=Abstract

Studies 33

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Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. Author(s): Spinner NB, Zackai E, Cheng SD, Knoll JH. Source: American Journal of Medical Genetics. 1995 May 22; 57(1): 61-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7645601&dopt=Abstract

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The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Author(s): Rougeulle C, Glatt H, Lalande M. Source: Nature Genetics. 1997 September; 17(1): 14-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9288088&dopt=Abstract

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The Angelman syndrome in two brothers. Author(s): Pashayan HM, Singer W, Bove C, Eisenberg E, Seto B. Source: American Journal of Medical Genetics. 1982 November; 13(3): 295-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7180875&dopt=Abstract

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The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Author(s): Nawaz Z, Lonard DM, Smith CL, Lev-Lehman E, Tsai SY, Tsai MJ, O'Malley BW. Source: Molecular and Cellular Biology. 1999 February; 19(2): 1182-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9891052&dopt=Abstract

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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Author(s): Farber C, Dittrich B, Buiting K, Horsthemke B. Source: Human Molecular Genetics. 1999 February; 8(2): 337-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9931342&dopt=Abstract

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The critical region for Angelman syndrome lies between D15S122 and D15S113. Author(s): Greger V, Reis A, Lalande M. Source: American Journal of Medical Genetics. 1994 December 1; 53(4): 396-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7864058&dopt=Abstract

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The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Author(s): Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. Source: Genome Research. 1997 April; 7(4): 368-77. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9110176&dopt=Abstract


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The elusive Angelman syndrome critical region. Author(s): Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A. Source: Journal of Medical Genetics. 1997 September; 34(9): 714-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9321755&dopt=Abstract

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The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Author(s): Brilliant MH. Source: Mammalian Genome : Official Journal of the International Mammalian Genome Society. 1992; 3(4): 187-91. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1611213&dopt=Abstract

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The Prader-Willi syndrome and the Angelman syndrome. Author(s): Vogels A, Fryns JP. Source: Genet Couns. 2002; 13(4): 385-96. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12558108&dopt=Abstract

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The spectrum of mutations in UBE3A causing Angelman syndrome. Author(s): Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Source: Human Molecular Genetics. 1999 January; 8(1): 129-35. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9887341&dopt=Abstract

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Transmission of Angelman syndrome by an affected mother. Author(s): Lossie AC, Driscoll DJ. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1999 September-October; 1(6): 262-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11258627&dopt=Abstract

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UBE3A “mutations” in two unrelated and phenotypically different Angelman syndrome patients. Author(s): Fung DC, Yu B, Cheong KF, Smith A, Trent RJ. Source: Human Genetics. 1998 April; 102(4): 487-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9600250&dopt=Abstract

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UBE3A/E6-AP mutations cause Angelman syndrome. Author(s): Kishino T, Lalande M, Wagstaff J. Source: Nature Genetics. 1997 January; 15(1): 70-3. Erratum In: Nat Genet 1997 April; 15(4): 411. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8988171&dopt=Abstract

Studies 35

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Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome. Author(s): Dupont JM, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit MF. Source: Journal of Medical Genetics. 1999 August; 36(8): 652-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10465123&dopt=Abstract

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Unexpected familial recurrence in Angelman syndrome. Author(s): Connerton-Moyer KJ, Nicholls RD, Schwartz S, Driscoll DJ, Hendrickson JE, Williams CA, Pauli RM. Source: American Journal of Medical Genetics. 1997 June 13; 70(3): 253-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9188662&dopt=Abstract

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Unilateral cleft lip in a boy with Angelman syndrome. Author(s): Rosby O, Stromme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH. Source: Journal of Craniofacial Genetics and Developmental Biology. 1996 April-June; 16(2): 122-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8773903&dopt=Abstract

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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Author(s): Fridman C, Varela MC, Nicholls RD, Koiffmann CP. Source: Clinical Genetics. 1998 October; 54(4): 303-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9831341&dopt=Abstract

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Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. Author(s): Thompson DA, Kriss A, Cottrell S, Taylor D. Source: Developmental Medicine and Child Neurology. 1999 September; 41(9): 633-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10503922&dopt=Abstract

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CHAPTER 2. NUTRITION AND ANGELMAN SYNDROME Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and Angelman syndrome.

Finding Nutrition Studies on Angelman Syndrome The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “Angelman syndrome” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.


The following information is typical of that found when using the “Full IBIDS Database” to search for “Angelman syndrome” (or a synonym): ·

Effects of a low dose of melatonin on sleep in children with Angelman syndrome. Author(s): Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA. Source: Zhdanova, I V Wurtman, R J Wagstaff, J J-Pediatr-Endocrinol-Metab. 1999 JanFebruary; 12(1): 57-67

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Levodopa responsive Parkinsonism in adults with Angelman Syndrome. Author(s): Department of Paediatrics and Child Health, Flinders Medical Centre, Bedford Park, SA, Australia. Source: Harbord, M J-Clin-Neurosci. 2001 September; 8(5): 421-2 0967-5868

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Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. Author(s): Department of Pediatrics, Nemours Children's Clinic, Jacksonville, Florida 32207, USA. Source: Arn, P H Williams, C A Zori, R T Driscoll, D J Rosenblatt, D S Am-J-Med-Genet. 1998 May 18; 77(3): 198-200 0148-7299

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: ·

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Nutrition 39

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: ·

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMDÒHealth: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND ANGELMAN SYNDROME Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to Angelman syndrome. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to Angelman syndrome and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “Angelman syndrome” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to Angelman syndrome: ·

Adjunct diagnostic test for Angelman syndrome: the tuning fork response. Author(s): Hall BD, Cadle RG. Source: American Journal of Medical Genetics. 2002 November 1; 112(4): 429. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12376950&dopt=Abstract

·

Adjunct diagnostic test for Angelman syndrome: the tuning fork response. Author(s): Hall BD. Source: American Journal of Medical Genetics. 2002 May 1; 109(3): 238-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11977186&dopt=Abstract

·

Diet enriched with omega-3 fatty acids alleviates convulsion symptoms in epilepsy patients. Author(s): Schlanger S, Shinitzky M, Yam D.


Source: Epilepsia. 2002 January; 43(1): 103-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11879394&dopt=Abstract ·

Fertility treatments: Seeds of doubt. Author(s): Powell K. Source: Nature. 2003 April 17; 422(6933): 656-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12700731&dopt=Abstract

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Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Author(s): Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. Source: Neuron. 1998 October; 21(4): 799-811. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9808466&dopt=Abstract

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Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Author(s): Manning M, Lissens W, Bonduelle M, Camus M, De Rijcke M, Liebaers I, Van Steirteghem A. Source: Molecular Human Reproduction. 2000 November; 6(11): 1049-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11044469&dopt=Abstract

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: ·

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

·


·

Chinese Medicine: http://www.newcenturynutrition.com/

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drkoop.comÒ: http://www.drkoop.com/InteractiveMedicine/IndexC.html

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Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

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Google: http://directory.google.com/Top/Health/Alternative/

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Healthnotes: http://www.healthnotes.com/

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MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

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Open Directory Project: http://dmoz.org/Health/Alternative/

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HealthGate: http://www.tnp.com/

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WebMDÒHealth: http://my.webmd.com/drugs_and_herbs

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,,00.html

Alternative Medicine 43

·

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

The following is a specific Web list relating to Angelman syndrome; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation (some Web sites are subscription based): ·

Herbs and Supplements Melatonin Source: Healthnotes, Inc. www.healthnotes.com

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. SYNDROME

CLINICAL

TRIALS

AND

ANGELMAN

Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning Angelman syndrome.

Recent Trials on Angelman Syndrome The following is a list of recent trials dedicated to Angelman syndrome.8 Further information on a trial is available at the Web site indicated. ·

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Condition(s): Williams Syndrome; Angelman Syndrome; Prader-Willi Syndrome; Shprintzen syndrome; Smith-Magenis syndrome; DiGeorge Syndrome; Chromosome Abnormalities Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS); Baylor College of Medicine Purpose - Excerpt: Objectives: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

8

These are listed at www.ClinicalTrials.gov.


Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00004351

Keeping Current on Clinical Trials The U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide current information about clinical research across the broadest number of diseases and conditions. The site was launched in February 2000 and currently contains approximately 5,700 clinical studies in over 59,000 locations worldwide, with most studies being conducted in the United States. ClinicalTrials.gov receives about 2 million hits per month and hosts approximately 5,400 visitors daily. To access this database, simply go to the Web site at http://www.clinicaltrials.gov/ and search by “Angelman syndrome” (or synonyms). While ClinicalTrials.gov is the most comprehensive listing of NIH-supported clinical trials available, not all trials are in the database. The database is updated regularly, so clinical trials are continually being added. The following is a list of specialty databases affiliated with the National Institutes of Health that offer additional information on trials: ·

For clinical studies at the Warren Grant Magnuson Clinical Center located in Bethesda, Maryland, visit their Web site: http://clinicalstudies.info.nih.gov/

·

For clinical studies conducted at the Bayview Campus in Baltimore, Maryland, visit their Web site: http://www.jhbmc.jhu.edu/studies/index.html

·

For cancer trials, visit the National Cancer Institute: http://cancertrials.nci.nih.gov/

·

For eye-related trials, visit and search the Web page of the National Eye Institute: http://www.nei.nih.gov/neitrials/index.htm

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For heart, lung and blood trials, visit the Web page of the National Heart, Lung and Blood Institute: http://www.nhlbi.nih.gov/studies/index.htm

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For trials on aging, visit and search the Web site of the National Institute on Aging: http://www.grc.nia.nih.gov/studies/index.htm

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For rare diseases, visit and search the Web site sponsored by the Office of Rare Diseases: http://ord.aspensys.com/asp/resources/rsch_trials.asp

·

For alcoholism, visit the National Institute on Alcohol Abuse and Alcoholism: http://www.niaaa.nih.gov/intramural/Web_dicbr_hp/particip.htm

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For trials on infectious, immune, and allergic diseases, visit the site of the National Institute of Allergy and Infectious Diseases: http://www.niaid.nih.gov/clintrials/

·

For trials on arthritis, musculoskeletal and skin diseases, visit newly revised site of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health: http://www.niams.nih.gov/hi/studies/index.htm

·

For hearing-related trials, visit the National Institute on Deafness and Other Communication Disorders: http://www.nidcd.nih.gov/health/clinical/index.htm

Clinical Trials 47

·

For trials on diseases of the digestive system and kidneys, and diabetes, visit the National Institute of Diabetes and Digestive and Kidney Diseases: http://www.niddk.nih.gov/patient/patient.htm

·

For drug abuse trials, visit and search the Web site sponsored by the National Institute on Drug Abuse: http://www.nida.nih.gov/CTN/Index.htm

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For trials on mental disorders, visit and search the Web site of the National Institute of Mental Health: http://www.nimh.nih.gov/studies/index.cfm

·

For trials on neurological disorders and stroke, visit and search the Web site sponsored by the National Institute of Neurological Disorders and Stroke of the NIH: http://www.ninds.nih.gov/funding/funding_opportunities.htm#Clinical_Trials

49

CHAPTER 5. BOOKS ON ANGELMAN SYNDROME Overview This chapter provides bibliographic book references relating to Angelman syndrome. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on Angelman syndrome include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Chapters on Angelman Syndrome In order to find chapters that specifically relate to Angelman syndrome, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and Angelman syndrome using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “Angelman syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on Angelman syndrome: ·

What is the Risk of Inheriting Epilepsy? Source: inEpilepsy and Pregnancy. Tomson, T. Gram, L. Sillanpaa, M. Johannessen, S.I., eds. Wrightson Biomedical Publishing Ltd., pp. 187-199, 1997. Contact: Wrightson Biomedical Publishing, Ltd., Ash Barn House, Winchester Road, Stroud, Petersfield, Hampshire, GU32 3PN, UK. 01730 265647. FAX: 01730 260368. Summary: What is the Risk of Inheriting Epilepsy?, a chapter in Epilepsy and Pregnancy, explores the probability associated with the passage of epilepsy to succeeding generations through genetic factors. Four modes of epilepsy inheritance are examined: Monogenic (Mendelian), heterogenic (polygenic, multifactorial), mitochondrial, and nongenetic. An increased risk of epilepsy has been demonstrated in over 150 of approximately 5,000 diseases with Mendelian inheritance. The author describes examples of autosomal-dominant inheritance of epilepsy through diseases such as neurofibromatosis, Huntington's disease, benign familial neonatal convulsions,


and partial epilepsy; of autosomal-recessive inheritance of progressive myoclonus epilepsy, neuronal ceroid lipofuscinosis, progressive encephalopathy, and northern epilepsy; and of X-linked inheritance through Menkes' kinky hair disease, fragile-X syndrome, Lesch-Nyhan disease, and Pelizaeus-Merzbacher disease. Common chromosomal abnormalities presenting with epileptic seizures include Down's syndrome and Angelman syndrome. Epilepsy is also a feature of two maternally transmitted disorders with mitochondrial inheritance: myoclonic epilepsy with ragged red fibers and mitochondrial encephalopathy. Multifactorial inheritance accounts for epilepsy transmission in the vast majority of the population with epilepsy. Genetic factors have been strongly suggested to contribute to the etiology of juvenile myoclonic epilepsy, childhood absence epilepsy, and benign rolandic epilepsy. The evaluation of risk should take into account factors such as family history, age of onset, seizure type, and electroencephalography features. The overall risk to offspring of inheriting epilepsy from the parents is about 5 percent and sibling risk is dependent upon the factors described. ·

Congenital Genetic Disorders and Syndromes Source: in Pinkham, J.R., et al., eds. Pediatric Dentistry: Infancy Through Adolescence. 3rd ed. Philadelphia, PA: W.B. Saunders Company. 1999. p. 225-250. Contact: Available from W.B. Saunders Company. Book Orders Fulfillment Department, Harcourt Health Sciences, 11830 Westline Industrial Drive, Saint Louis, MO 63146-9988. (800) 545-2522. Website: www.wbsaunders.com. PRICE: $69.00 plus shipping and handling. ISBN: 0721682383. Summary: This chapter on congenital genetic disorders and syndromes is from a textbook on pediatric dentistry. The author notes that, although many of these disorders are not preventable or curable, early detection may allow significantly improved health care for the affected individual and improved family planning. Topics include inheritance patterns, including dominant, recessive, X linked, polygenic or multifactorial, chromosomal, and nontraditional inheritance; dominant genetic conditions, including neurofibromatosis I (von Recklinghausen disease), tuberous sclerosis, Marfan syndrome, Ehlers Danlos syndrome, malignant hyperthermia, primary bone dysplasias, branchio oto renal syndrome, Gorlin syndrome, Gardner syndrome, single central incisor, Treacher Collins syndrome, cleidocranial dysostosis and pyknodysostosis, craniosynostosis syndromes (Apert, Crouzon, Saethre Chotzen, Pfeiffer), velo cardio facial syndrome, and oculo dento digital syndrome; autosomal recessive conditions, including cystic fibrosis, sickle cell disease, and mucopolysaccharidoses; x linked conditions, including mental retardation and ectodermal dysplasia; polygenic conditions (multifactorial), including cleft lip and palate, and neural tube defects; chromosomal syndromes, including Down syndrome, Turner syndrome, and Klinefelter syndrome; and imprinted genes, including Prader Willi syndrome, Angelman syndrome, Beckwith Wiedemann syndrome, and Williams syndrome. The chapter stresses that the dentist who looks at a patient's face and is a careful observer can provide a valuable service to the patient by recognizing potential abnormalities and referring the child to the proper medical care provider. 31 figures. 8 references.

51

CHAPTER 6. MULTIMEDIA ON ANGELMAN SYNDROME Overview In this chapter, we show you how to keep current on multimedia sources of information on Angelman syndrome. We start with sources that have been summarized by federal agencies, and then show you how to find bibliographic information catalogued by the National Library of Medicine.

Video Recordings An excellent source of multimedia information on Angelman syndrome is the Combined Health Information Database. You will need to limit your search to “Videorecording” and “Angelman syndrome” using the “Detailed Search” option. Go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find video productions, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Videorecording (videotape, videocassette, etc.).” Type “Angelman syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for video recordings on Angelman syndrome: ·

Promoting Functional Communication in Children with Angelman Syndrome Source: Westmont, IL: Angelman Syndrome Foundation, Inc. 200x. (videocassette). Contact: Available from Angelman Syndrome Foundation, Inc. 414 Plaza Drive, Suite 209, Westmont, IL 60559. (800) IF-ANGEL or (630) 734-9267. Fax (630) 655-0391. E-mail: [email protected]. Website: www.angelman.org. PRICE: $30.00 plus shipping and handling. Summary: This videotape features a lecture by Dr. Stephen Calculator, a specialist in promoting functional communication skills in children, including those with Angelman syndrome. Dr. Calculator emphasizes the importance of focusing on communication in real life, making sure that any therapy or educational goals include ways to generalize to the child's every day life, interactions, and quality of life. The speaker stresses that there are no cognitive prerequisites to communication; all children can communicate and can be encouraged to have more effective communication. Methods for


communication can include aggression, facial expression, reaching or grabbing, laughing or giggling, and one word signs or pictures. Dr. Calculator reviews the seven levels of communicative competence (as outlined by Rowland and Schweigert) and explains the child's domain of people, including peer groups, friends, classmates, family members, teachers, speech language pathologists, and aids. Other topics include functional sign language, the role of technology, the role of augmentative and alternative communication (AAC), and the importance of helping children to communicate immediately (rather than always focusing on long term goals). Dr. Calculator recommends a specific book to help parents with their decision making processes: Choosing Options and Accommodations for Children: A Guide to Planning Inclusive Education. A final section discusses discrepancy analysis, a technique used to assess in which parts of the child's life communication is an issue and needs attention. Dr. Calculator concludes by reiterating the importance of working in natural settings, for assessment, therapy, and ongoing communication practice.

53

APPENDICES

55

APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute9: ·

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

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National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

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National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

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National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

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National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

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National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

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National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

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National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

9

These publications are typically written by one or more of the various NIH Institutes.


·

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

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National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

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National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

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National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

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National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

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National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

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National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

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National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

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National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

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National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

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National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

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National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

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National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

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Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

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Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

Physician Resources 57

NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.10 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:11 ·

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

·

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

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NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

·

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

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Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

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Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

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Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

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Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

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Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

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Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

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MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

10 Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 11 See http://www.nlm.nih.gov/databases/databases.html.


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Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

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Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html The NLM Gateway12

The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.13 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “Angelman syndrome” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 560 1 5 0 0 566

HSTAT14 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.15 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.16 Simply search by “Angelman syndrome” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x. The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 14 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 15 The HSTAT URL is http://hstat.nlm.nih.gov/. 16 Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations. 12 13


Coffee Break: Tutorials for Biologists17 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.18 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.19 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: ·

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

·

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Angelman Syndrome In the following section, we will discuss databases and references which relate to the Genome Project and Angelman syndrome.

Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).20 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information.

17 Adapted

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html. The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 19 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 20 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease. 18


To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “Angelman syndrome” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for Angelman syndrome: ·

Angelman Syndrome Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?105830

Genes and Disease (NCBI - Map) The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: ·

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

·

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

·

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

·

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

·

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html


·

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

·

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html

Entrez Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: ·

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

·

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

·

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

·

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

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Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

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OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

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PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

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ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

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Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

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PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

·

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

·

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then


select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “Angelman syndrome” (or synonyms) into the search box and click “Go.”

Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database21 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database22 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “Angelman syndrome” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

21 Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 22 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

63

APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on Angelman syndrome can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to Angelman syndrome. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly.

The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below.

Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to Angelman syndrome. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “Angelman syndrome”:


·

Other Guides Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Movement Disorders http://www.nlm.nih.gov/medlineplus/movementdisorders.html Neurologic Diseases http://www.nlm.nih.gov/medlineplus/neurologicdiseasesgeneral.html Prader-Willi Syndrome http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html

You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on Angelman syndrome. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: ·

Touched by an Angel: The Facts About Angelman Syndrome Source: Westmont, IL: Angelman Syndrome Foundation, Inc. 2000. [2 p.]. Contact: Available from Angelman Syndrome Foundation, Inc. 414 Plaza Drive, Suite 209, Westmont, IL 60559. (800) IF-ANGEL or (630) 734-9267. Fax (630) 655-0391. E-mail: [email protected]. Website: www.angelman.org. PRICE: Single copy free. Summary: This brochure describes Angelman Syndrome, a genetic disorder characterized by a functionally severe developmental delay, speech impairment (lack of speech or minimal use of words), receptive and nonverbal communication skills higher than verbal ones, movement or balance disorder (usually ataxia of gait or tremulous movement of limbs), and behavior uniqueness, including any combination of frequent smiling and laughter, apparent happy demeanor, easily excitable personality (often with hand flapping movements), hypermotoric behavior, and short attention span. The brochure lists other symptoms that are frequently or sometimes associated with Angelman Syndrome, explains the genetic basis for the disability, and describes the work and activities of the Angelman Foundation. The brochure emphasizes that early diagnosis and intervention are beneficial when Angelman Syndrome is suspected. Many educational and behavioral interventions have been shown to be effective in the areas of

Patient Resources 65

communication, education, sleep disturbances, and general behavior. A major focus is on alternative and enhanced communication techniques which utilize the children's greater receptive language ability. The brochure lists related Angelman Syndrome websites and includes a form for readers to request additional information. ·

Facts About Angelman Syndrome: Information for Families Source: Westmont, IL: National Angelman Syndrome Foundation. 2001. [11 p.]. Contact: Available from National Angelman Syndrome Foundation. 414 Plaza Drive, Suite 209, Westmont, IL 60559. (800) 432-6435 or (630) 734-9267. Website: www.angelman.org. PRICE: Single copy free. Summary: This fact sheet describes Angelman syndrome, which is characterized by a stiff, jerky gait, absent speech, excessive laughter, and seizures. The fact sheet reviews the developmental and physical features of Angelman syndrome, discusses the role of chromosome 15, and then details the medical and developmental problems associated with this syndrome. These problems can include seizures, gait and movement disorders, hyperactivity, laughter and happiness, speech and language problems, mental retardation, hypopigmentation (lack of or reduced pigment or coloring), strabismus (crossed eyes) and ocular albinism, neuropathology (brain structure), sleep disorders, feeding problems, and oral motor behaviors. The fact sheet also reviews physical growth, education, young adulthood, laboratory testing, and genetic counseling. The fact sheet concludes with a list of acknowledgments and a list of references. 25 references.

Healthfinder™ Healthfinder™ is sponsored by the U.S. Department of Health and Human Services and offers links to hundreds of other sites that contain healthcare information. This Web site is located at http://www.healthfinder.gov. Again, keyword searches can be used to find guidelines. The following was recently found in this database: ·

Angelman Syndrome Summary: This consumer information fact sheet presents a general overview of Angelman syndrome including symptoms and prevalence rate. Source: Center for the Study of Autism http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=5294 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to Angelman syndrome. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html.


PEDBASE Similar to NORD, PEDBASE covers relatively rare disorders, limited mainly to pediatric conditions. PEDBASE was designed by Dr. Alan Gandy. To access the database, which is more oriented to researchers than patients, you can view the current list of health topics covered at the following Web site: http://www.icondata.com/health/pedbase/pedlynx.htm. Additional Web Sources

A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: ·


·

Family Village: http://www.familyvillage.wisc.edu/specific.htm

·

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

·

Med Help International: http://www.medhelp.org/HealthTopics/A.html

·

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

·

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

·

WebMDÒHealth: http://my.webmd.com/health_topics

Finding Associations There are a number of Internet directories that provide lists of medical associations with information on or resources relating to Angelman syndrome. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with Angelman syndrome.

The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about Angelman syndrome. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797.

Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine.

Patient Resources 67

To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “Angelman syndrome” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information.

The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “Angelman syndrome”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “Angelman syndrome” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “Angelman syndrome” (or a synonym) into the search box, and click “Submit Query.”

69

APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.23

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of libraries recommended by the National

23

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.


Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)24: ·

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

·

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

·

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

·

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

·

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

·

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

·

California: Gateway Health Library (Sutter Gould Medical Foundation)

·

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

·

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

·

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

·

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

·

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

·

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

·

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

·

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

·

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

·

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

·

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

24

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries 71

·

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

·

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

·

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

·

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

·

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

·

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

·

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

·

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

·

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

·

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

·

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

·

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

·

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

·

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

·

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

·

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

·

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

·

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

·

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

·

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/


·

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

·

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

·

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

·

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

·

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

·

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

·

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

·

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

·

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

·

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

·

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

·

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

·

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

·

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

·

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

·

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

·

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

·

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

·

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

Finding Medical Libraries 73

·

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

·

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

·

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

·

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

·

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

·

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

·

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

·

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

·

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

·

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

·

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

·

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

·

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

·

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

·

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

·

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

·

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

·

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

·

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

·

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/


·

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

·

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

·

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

·

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

75

ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: ·

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

·

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

·

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

·

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

·

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

·

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

·

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a).

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: ·

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

·

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

·

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

·

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

77

ANGELMAN SYNDROME DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Adverse effect: An unwanted side effect of treatment. [NIH] Age of Onset: The age or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual. [NIH] Albinism: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino acid: Any organic compound containing an amino (-NH2 and a carboxyl (- COOH) group. The 20 a-amino acids listed in the accompanying table are the amino acids from which proteins are synthesized by formation of peptide bonds during ribosomal translation of messenger RNA; all except glycine, which is not optically active, have the L configuration. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by posttranslational enzymatic modification of amino acids residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y-aminobutyric acid, that have no relation to proteins. Abbreviated AA. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Anus: The opening of the rectum to the outside of the body. [NIH] Aplasia: Lack of development of an organ or tissue, or of the cellular products from an organ or tissue. [EU] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical


manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Bladder: The organ that stores urine. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Division: The fission of a cell. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Ceroid: A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions. [NIH] Chin: The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chromosome Deletion: Actual loss of a portion of the chromosome. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH]

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Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Cleft Lip: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and


theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Congenita: Displacement, subluxation, or malposition of the crystalline lens. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Convulsion: A violent involuntary contraction or series of contractions of the voluntary muscles. [EU] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Curative: Tending to overcome disease and promote recovery. [EU] Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] Decision Making: The process of making a selective intellectual judgment when presented with several complex alternatives consisting of several variables, and usually defining a course of action or an idea. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Dental Care: The total of dental diagnostic, preventive, and restorative services provided to meet the needs of a patient (from Illustrated Dictionary of Dentistry, 1982). [NIH] Dermal: Pertaining to or coming from the skin. [NIH] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH] Dihydrotestosterone: Anabolic agent. [NIH] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Drug Interactions: The action of a drug that may affect the activity, metabolism, or toxicity of another drug. [NIH] Dyskinesias: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of

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disease may be referred to as dyskinesia syndromes (movement disorders). Dyskinesias are also a relatively common manifestation of basal ganglia diseases. [NIH] Dysostosis: Defective bone formation. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Ectoderm: The outer of the three germ layers of the embryo. [NIH] Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, focal dermal hypoplasia, and aplasia cutis congenita. [NIH] Efficacy: The extent to which a specific intervention, procedure, regimen, or service produces a beneficial result under ideal conditions. Ideally, the determination of efficacy is based on the results of a randomized control trial. [NIH] Electroencephalography: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. [NIH] Encephalocele: Cerebral tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. [NIH]

Encephalopathy: A disorder of the brain that can be caused by disease, injury, drugs, or chemicals. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Epidermis: Nonvascular layer of the skin. It is made up, from within outward, of five layers: 1) basal layer (stratum basale epidermidis); 2) spinous layer (stratum spinosum epidermidis); 3) granular layer (stratum granulosum epidermidis); 4) clear layer (stratum lucidum epidermidis); and 5) horny layer (stratum corneum epidermidis). [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH]


Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [NIH] Facial: Of or pertaining to the face. [EU] Facial Expression: Observable changes of expression in the face in response to emotional stimuli. [NIH] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fetal Development: Morphologic and physiologic growth and development of the mammalian embryo or fetus. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Gait: Manner or style of walking. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

General practitioner: A medical practitioner who does not specialize in a particular branch of medicine or limit his practice to a specific class of diseases. [NIH] Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Gestures: Movement of a part of the body for the purpose of communication. [NIH] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glycosaminoglycans: Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or Nacetylgalactosamine. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Happiness: Highly pleasant emotion characterized by outward manifestations of gratification; joy. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the

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previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. the genetic transmission of a particular quality or trait from parent to offspring. 2. the genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH] Heterogenic: Derived from a different source or species. Also called heterogenous. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Incisor: Anything adapted for cutting; any one of the four front teeth in each jaw. [NIH] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. an infectious disease. [EU]

Intestinal: Having to do with the intestines. [NIH] Involuntary: Reaction occurring without intention or volition. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called


colon. [NIH] Leukemia: Cancer of blood-forming tissue. [NIH] Library Services: circulation. [NIH]

Services offered to the library user. They include reference and

Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Lip: Either of the two fleshy, full-blooded margins of the mouth. [NIH] Lipid: Fat. [NIH] Lipofuscin: A naturally occurring lipid pigment with histochemical characteristics similar to ceroid. It accumulates in various normal tissues and apparently increases in quantity with age. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Long-Term Potentiation: A persistent increase in synaptic efficacy, usually induced by appropriate activation of the same synapses. The phenomenological properties of long-term potentiation suggest that it may be a cellular mechanism of learning and memory. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Lysosomal Storage Diseases: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant Hyperthermia: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Maxillary: Pertaining to the maxilla : the irregularly shaped bone that with its fellow forms the upper jaw. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membranes: Thin layers of tissue which cover parts of the body, separate adjacent cavities, or connect adjacent structures. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU]

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Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH] Mesoderm: The middle germ layer of the embryo. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Migration: The systematic movement of genes between populations of the same species, geographic race, or variety. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Motor Skills: Performance of complex motor acts. [NIH] Movement Disorders: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. [NIH] Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myoclonus: Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some central nervous systems diseases (e.g., epilepsy, myoclonic). Nocturnal myoclonus may represent a normal physiologic event or occur as the principal feature of the nocturnal myoclonus syndrome. (From Adams et al., Principles of Neurology, 6th ed, pp102-3). [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal


agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH]

Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. pertaining to a nerve or to the nerves. 2. situated in the region of the spinal axis, as the neutral arch. [EU] Neural tube defects: These defects include problems stemming from fetal development of the spinal cord, spine, brain, and skull, and include birth defects such as spina bifida, anencephaly, and encephalocele. Neural tube defects occur early in pregnancy at about 4 to 6 weeks, usually before a woman knows she is pregnant. Many babies with neural tube defects have difficulty walking and with bladder and bowel control. [NIH] Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU]

Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Nonverbal Communication: Transmission of emotions, ideas, and attitudes between individuals in ways other than the spoken language. [NIH] Ocular: 1. of, pertaining to, or affecting the eye. 2. eyepiece. [EU] Omega-3 fatty acid: A type of fat obtained in the diet and involved in immunity. [NIH] Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Palate: The structure that forms the roof of the mouth. It consists of the anterior hard palate and the posterior soft palate. [NIH] Palliative: 1. affording relief, but not cure. 2. an alleviating medicine. [EU] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH]

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Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Pediatric Dentistry: The practice of dentistry concerned with the dental problems of children, proper maintenance, and treatment. The dental care may include the services provided by dental specialists. [NIH] Peer Group: Group composed of associates of same species, approximately the same age, and usually of similar rank or social status. [NIH] Pelvic: Pertaining to the pelvis. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Pneumonia: Inflammation of the lungs. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Post-traumatic: Occurring as a result of or after injury. [EU] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and


rests upon the rectum. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Reductase: Enzyme converting testosterone to dihydrotestosterone. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Rigidity: Stiffness or inflexibility, chiefly that which is abnormal or morbid; rigor. [EU] Rolandic Epilepsy: Epilepsy induced by specific external stimuli. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sex Determination: female or male. [NIH]

The biological characteristics which distinguish human beings as

Shock: The general bodily disturbance following a severe injury; an emotional or moral upset occasioned by some disturbing or unexpected experience; disruption of the circulation, which can upset all body functions: sometimes referred to as circulatory shock. [NIH]

Dictionary 89

Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Sign Language: A system of hand gestures used for communication by the deaf or by people speaking different languages. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Social Environment: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Sperm: The fecundating fluid of the male. [NIH] Spina bifida: A defect in development of the vertebral column in which there is a central deficiency of the vertebral lamina. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Stroke: Sudden loss of function of part of the brain because of loss of blood flow. Stroke may be caused by a clot (thrombosis) or rupture (hemorrhage) of a blood vessel to the brain. [NIH]

Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Symphysis: A secondary cartilaginous joint. [NIH] Synapses: Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate through direct electrical connections which are sometimes called electrical synapses; these are not included here but rather in gap junctions. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or


chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Testosterone: A hormone that promotes the development and maintenance of male sex characteristics. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Therapeutics: The branch of medicine which is concerned with the treatment of diseases, palliative or curative. [NIH] Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Ubiquitin: A highly conserved 76 amino acid-protein found in all eukaryotic cells. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Venous: Of or pertaining to the veins. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Video Recording: The storing or preserving of video signals for television to be played back later via a transmitter or receiver. Recordings may be made on magnetic tape or discs (videodisc recording). [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers'

Dictionary 91

and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

92

INDEX A Adverse effect, 81, 95 Age of Onset, 50, 81 Albinism, 69, 81 Alternative medicine, 81 Amino acid, 81, 96 Anatomical, 81, 83, 88, 94 Anemia, 63, 81 Anesthesia, 81, 89 Anus, 81, 82, 83 Aplasia, 81, 86 Arterial, 81, 93 Arteries, 81, 82, 84, 90 Ataxia, 63, 68, 81, 96 B Basal Ganglia, 82, 85 Basal Ganglia Diseases, 82, 85 Base, 82, 88 Benign, 49, 82 Bladder, 82, 92, 93, 97 Blood vessel, 82, 83, 95, 96 Bowel, 82, 85, 92, 95 Bowel Movement, 82, 85, 95 Branch, 77, 82, 87, 95, 96 C Carcinogens, 82, 92 Cell, 50, 62, 63, 82, 83, 84, 89, 91, 92, 93, 94, 96 Cell Division, 62, 82, 93 Central Nervous System, 82, 91 Cerebellar, 81, 82, 94 Cerebral, 81, 82, 86 Cerebral Cortex, 81, 82 Cerebrum, 82, 96 Ceroid, 50, 83, 89 Chin, 83, 90 Chromosomal, 50, 83 Chromosome, 3, 5, 42, 45, 69, 83 Chromosome Deletion, 5, 83 Chronic, 62, 83, 86, 88, 89, 93 Chronic renal, 83, 93 Cleft Lip, 50, 83 Clinical trial, 4, 45, 46, 59, 83 Cofactor, 83, 93 Colon, 62, 83, 89 Complement, 83, 84 Complementary and alternative medicine, 41, 43, 84 Complementary medicine, 41, 84 Computational Biology, 59, 62, 84 Congenita, 84, 86 Connective Tissue, 84, 87

Contraindications, ii, 84 Convulsion, 42, 84 Coronary, 84, 90 Coronary Thrombosis, 84, 90 Cortical, 84, 94, 96 Curative, 84, 96 D Databases, Bibliographic, 59, 85 Decision Making, 54, 85 Degenerative, 85, 90 Deletion, 3, 45, 85 Dental Care, 85, 92 Dermal, 85, 86 Digestive system, 47, 85 Dihydrotestosterone, 85, 94 Distal, 85, 93 Drug Interactions, 85 Dyskinesias, 82, 85, 90 Dysostosis, 50, 85 Dysplasia, 63, 85 Dystrophy, 63, 85 E Ectoderm, 85 Ectodermal Dysplasia, 50, 85 Efficacy, 86, 89 Electroencephalography, 50, 86 Encephalocele, 86, 92 Encephalopathy, 50, 86 End-stage renal, 83, 86, 93 Environmental Exposure, 86, 92 Environmental Health, 58, 60, 86 Enzyme, 86, 90, 94 Epidermis, 86 Erythrocytes, 81, 86 Esophagus, 85, 86, 95 Essential Tremor, 63, 86 Eukaryotic Cells, 86, 96 F Facial, 50, 54, 86 Facial Expression, 54, 86 Family Planning, 50, 59, 87 Fat, 87, 89, 92 Fetal Development, 87, 92 Fibrosis, 50, 63, 87, 94 G Gait, 68, 69, 87 Gallbladder, 85, 87 Gene, 5, 45, 64, 87, 92 General practitioner, 5, 87 Genetic Counseling, 69, 87 Genetics, 4, 41, 42, 87 Genotype, 4, 45, 87, 93

Index 93

Gestures, 87, 95 Gland, 87, 92, 93 Glucose, 62, 87 Glycosaminoglycans, 87, 90 Governing Board, 87, 93 Growth, 63, 69, 87, 89, 91, 92, 93 H Happiness, 69, 87 Hemoglobin, 81, 86, 87, 88 Hemoglobinuria, 62, 88 Hemorrhage, 88, 95 Hereditary, 85, 88, 90, 94 Heredity, 87, 88 Heterogeneity, 5, 88 Heterogenic, 49, 88 Hypoplasia, 86, 88 I Id, 39, 42, 70, 76, 78, 88 Immunodeficiency, 62, 88 Impairment, 68, 81, 88, 90 Incisor, 50, 88 Infancy, 3, 50, 88 Infarction, 84, 88, 90 Infection, 88, 95 Intestinal, 88, 89 Involuntary, 82, 84, 85, 86, 88, 91 K Kb, 58, 88 Kidney Disease, 47, 58, 63, 89 L Large Intestine, 85, 89, 94 Leukemia, 62, 89 Library Services, 76, 89 Ligament, 89, 93 Lip, 83, 89 Lipid, 83, 89 Lipofuscin, 83, 89 Liver, 85, 87, 89 Long-Term Potentiation, 42, 89 Lymphoid, 89 Lymphoma, 62, 89 Lysosomal Storage Diseases, 89, 90 M Malabsorption, 62, 89 Malignant, 50, 62, 89 Malignant Hyperthermia, 50, 89 Malnutrition, 89, 91 Maxillary, 83, 89 MEDLINE, 60, 62, 63, 89 Melanocytes, 89, 90 Melanoma, 62, 90 Membranes, 90, 96 Memory, 89, 90 Mental, v, 3, 4, 47, 50, 58, 60, 64, 69, 82, 83, 90, 93 Mental Disorders, 47, 90

Mental Retardation, 3, 50, 64, 69, 90 Mesoderm, 83, 90 MI, 79, 90 Migration, 83, 90 Modification, 81, 90, 94 Molecular, 42, 45, 59, 61, 62, 84, 90 Molecule, 82, 84, 90, 94 Motor Skills, 4, 90 Movement Disorders, 68, 69, 85, 90, 96 Mucopolysaccharidoses, 50, 90 Muscle Fibers, 91 Muscular Atrophy, 63, 91 Muscular Dystrophies, 85, 91 Myocardium, 90, 91 Myoclonus, 50, 91 Myotonic Dystrophy, 63, 91 N NCI, 1, 46, 57, 91 Necrosis, 88, 90, 91 Need, 3, 49, 53, 71, 83, 91 Neonatal, 49, 91 Neoplasia, 62, 91 Neoplastic, 89, 91 Nephropathy, 89, 91 Nerve, 81, 83, 91, 92, 94, 96 Nervous System, 63, 82, 91, 92 Neural, 50, 86, 92 Neural tube defects, 50, 92 Neurology, 4, 91, 92 Neuronal, 50, 92 Neurons, 92, 96 Nonverbal Communication, 68, 92 O Ocular, 69, 92 Omega-3 fatty acid, 42, 92 Oncogene, 62, 92 P Palate, 50, 92 Palliative, 92, 96 Pancreas, 85, 92 Pancreatic, 62, 92 Pancreatic cancer, 62, 92 Paroxysmal, 62, 92 Patient Education, 68, 74, 76, 79, 92 Pediatric Dentistry, 50, 92 Peer Group, 54, 92 Pelvic, 92, 93 Pharmacologic, 81, 92, 96 Phenotype, 4, 45, 93 Physiologic, 87, 91, 93, 94 Pigment, 69, 81, 83, 89, 90, 93 Plants, 87, 93 Pneumonia, 84, 93 Polycystic, 63, 93 Posterior, 81, 92, 93 Post-traumatic, 90, 93


Practice Guidelines, 60, 93 Prevalence, 69, 93 Progressive, 50, 83, 87, 90, 91, 93 Prostate, 62, 93 Protein S, 63, 64, 93 Proximal, 45, 85, 93 Psychic, 90, 93, 94 Public Policy, 59, 94 Publishing, 5, 49, 94 Q Quality of Life, 53, 94 R Receptor, 5, 94 Rectum, 81, 82, 83, 85, 89, 93, 94 Red Nucleus, 82, 94 Reductase, 38, 94 Refer, 1, 83, 94 Retinoblastoma, 62, 94 Rigidity, 89, 93, 94 Rolandic Epilepsy, 50, 94 S Salivary, 85, 92, 94 Salivary glands, 85, 94 Sclerosis, 63, 94 Screening, 83, 94 Seizures, 3, 50, 69, 92, 94 Semen, 93, 94 Sex Determination, 63, 94 Shock, 91, 95 Side effect, 81, 95, 96 Sign Language, 54, 95 Skull, 86, 92, 95 Social Environment, 94, 95 Specialist, 53, 70, 95 Species, 88, 90, 92, 95 Spectrum, 90, 95

Sperm, 83, 95 Spina bifida, 92, 95 Spinal cord, 82, 91, 92, 95 Sporadic, 94, 95 Stomach, 85, 86, 95 Stool, 83, 89, 95 Stroke, 45, 47, 58, 95 Subclinical, 88, 94, 95 Symphysis, 83, 93, 95 Synapses, 89, 96 Synaptic, 89, 96 T Telangiectasia, 63, 96 Testosterone, 94, 96 Thalamic, 82, 96 Thalamic Diseases, 82, 96 Therapeutics, 96 Thrombosis, 93, 95, 96 Tissue, 81, 82, 84, 86, 88, 89, 90, 91, 92, 93, 95, 96 Toxic, v, 86, 96 Toxicity, 85, 96 Toxicology, 60, 96 Transmitter, 96, 97 Tuberous Sclerosis, 50, 63, 96 U Ubiquitin, 42, 96 Unconscious, 88, 96 Urethra, 93, 97 Urine, 82, 88, 97 V Venous, 93, 97 Veterinary Medicine, 60, 97 Video Recording, 53, 97 Y Yeasts, 93, 97

Index 95


Index 97


Angelman Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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Asperger's Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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Noonan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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Aicardi Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

Fetal Alcohol Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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Williams Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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Shaken Baby Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

Guillain-barrt Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

Angelman Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References