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Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 0199811792 Category : Medical Languages : en Pages : 363
Book Description
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 0199811792 Category : Medical Languages : en Pages : 363
Book Description
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author: Roger E. Stevenson Publisher: ISBN: Category : Medical Languages : en Pages : 450
Book Description
This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
Author: John C. Carey Publisher: John Wiley & Sons ISBN: 1119432677 Category : Science Languages : en Pages : 1104
Book Description
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Author: Bruno Bissonnette Publisher: McGraw-Hill Education / Medical ISBN: Category : Medical Languages : en Pages : 988
Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author: Publisher: ScholarlyEditions ISBN: 1464918821 Category : Medical Languages : en Pages : 20
Book Description
X-Linked Mental Retardation: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about X-Linked Mental Retardation in a compact format. The editors have built X-Linked Mental Retardation: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about X-Linked Mental Retardation in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of X-Linked Mental Retardation: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: World Health Organization Publisher: World Health Organization ISBN: 9241544228 Category : Medical Languages : en Pages : 377
Book Description
Provides clinical descriptions diagnostic guidelines and codes for all mental and behavioural disorders commonly encountered in clinical psychiatry. The book was developed from chapter V of the Tenth Revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10). The clinical descriptions and diagnostic guidelines were finalized after field testing by over 700 clinicians and researchers in 110 institutes in 40 countries making this book the product of the largest ever research effort designed to improve psychiatric diagnosis. Every effort has been made to define categories whose existence is scientifically justifiable as well as clinically useful. The classification divides disorders into ten groups according to major common themes or descriptive likeness a new feature which makes for increased convenience of use. For each disorder the book provides a full description of the main clinical features and all other important but less specific associated features. Diagnostic guidelines indicate the number balance and duration of symptoms usually required before a confident diagnosis can be made. Inclusion and exclusion criteria are also provided together with conditions to be considered in differential diagnosis. The guidelines are worded so that a degree of flexibility is retained for diagnostic decisions in clinical work particularly in the situation where provisional diagnosis may have to be made before the clinical picture is entirely clear or information is complete. ... As befitting a publication of considerable influence the amount of work that went into preparing ICD-10 has been formidable... - The International Journal of Social Psychiatry
Author: Publisher: ScholarlyEditions ISBN: 148169667X Category : Medical Languages : en Pages : 45
Book Description
Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about ZZZAdditional Research in a compact format. The editors have built Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about ZZZAdditional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: Publisher: ScholarlyEditions ISBN: 1464950660 Category : Medical Languages : en Pages : 36
Book Description
Advances in X-Linked Mental Retardation Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about X-Linked Mental Retardation in a compact format. The editors have built Advances in X-Linked Mental Retardation Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about X-Linked Mental Retardation in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in X-Linked Mental Retardation Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: Kay E. Davies Publisher: Oxford University Press, USA ISBN: Category : Language Arts & Disciplines Languages : en Pages : 150
Book Description
This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Author: Roger E. Stevenson
Author: Roger E. Stevenson
Author: Roger E. Stevenson
Author: John C. Carey
Author: Lionel Sharples Penrose
Author: Bruno Bissonnette
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Author: World Health Organization
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Author: 
Author: Kay E. Davies