Atlas Of X Linked Intellectual Disability Syndromes

Author : Roger E. Stevenson
Publisher : Oxford University Press
ISBN 13 : 0199811792
Total Pages : 363 pages
Book Rating : 4.93/5 ( download)

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Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Jacob A. Burack
Publisher : Oxford Library of Psychology
ISBN 13 : 0195305019
Total Pages : 432 pages
Book Rating : 4.12/5 ( download)

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Download or read book The Oxford Handbook of Intellectual Disability and Development written by Jacob A. Burack and published by Oxford Library of Psychology. This book was released on 2012 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: Though the tremendous amount of recently-emerged developmentally-oriented research has produced much progress in understanding the personality, social, and emotional characteristics of persons with intellectual disabilities (ID), there is still much we don't know, and the vast task of precisely charting functioning in all these areas, while also identifying the associated fine-tuned, complex, and intertwined questions that crop up along the way, seems daunting and insurmountable. The goal of The Oxford Handbook of Intellectual Disability and Development is to update the field with new, precise research and sophisticated theory regarding individuals with ID provided by seasoned developmental theorists who have made original conceptual contributions to the field. This volume is divided into five general sections (ID and its connection to genetics, relationships, cognitive development, socio-emotional development, and development of language), with each focused on a domain of functioning or aspect of life that is inherent to an integrated, transactional perspective of development. While developmental approaches to understanding persons with intellectual disability will continue to emerge, this comprehensive volume is a must-read for specialists and developmental psychologists who must have the conceptual foundations for examining the developmental trajectories across persons with any of the many different ID etiologies.

Author : Roger E. Stevenson
Publisher :
ISBN 13 :
Total Pages : 450 pages
Book Rating : 4.40/5 ( download)

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Download or read book X-linked Mental Retardation written by Roger E. Stevenson and published by . This book was released on 2000 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Philip R. Beales
Publisher : Oxford University Press
ISBN 13 : 0199719861
Total Pages : 300 pages
Book Rating : 4.60/5 ( download)

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Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Author : Carlo Sala
Publisher : Academic Press
ISBN 13 : 0128005335
Total Pages : 394 pages
Book Rating : 4.30/5 ( download)

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Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Author : Ruggero Caputo
Publisher : CRC Press
ISBN 13 : 1841842516
Total Pages : 448 pages
Book Rating : 4.16/5 ( download)

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Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

Author : Charles J. Epstein
Publisher : Oxford University Press, USA
ISBN 13 : 019514502X
Total Pages : 1110 pages
Book Rating : 4.21/5 ( download)

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Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.

Author :
Publisher : ScholarlyEditions
ISBN 13 : 148169667X
Total Pages : 45 pages
Book Rating : 4.78/5 ( download)

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Download or read book Advances in X-Linked Mental Retardation Research and Treatment: 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-06-21 with total page 45 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : J. A. Rondal
Publisher :
ISBN 13 :
Total Pages : 228 pages
Book Rating : 4.88/5 ( download)

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Download or read book Intellectual Disabilities written by J. A. Rondal and published by . This book was released on 2004-03-12 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in biobehavioural sciences are bringing important changes in the field of intellectual disabilities. Of particular interest is the description of particular behavioural phenotypes related to but distinct from genotypes, and the extent to which they are specific. In this text, more than 20 particular genetic syndromes with marked levels of intellectual disability are identified and described from a variety of points of view, including cognitive, language, behavioural, adaptive and social and community inclusion aspects. Readers should better understand genetic intellectual disabilities and how they affect individual behaviours. Researchers and practitioners, including mental health professionals, speech-language therapists, special educators and social workers, should learn considerably more about actively researched syndromes such as Down, Williams, Fragile-X, Prader-Willi, Angelman, Rett, 5-p (Cri-du-chat), Noonan and several others, and obtain the evidence-based information they need to improve developmental, educational, occupational and residential situations, favouring inclusion for the people with intellectual disability syndromes.

Author : Lynn T. Staheli
Publisher : Cambridge University Press
ISBN 13 : 9780521571067
Total Pages : 302 pages
Book Rating : 4.65/5 ( download)

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Download or read book Arthrogryposis written by Lynn T. Staheli and published by Cambridge University Press. This book was released on 1998-04-28 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.