Author : Roger E. Stevenson
Publisher : Oxford University Press
Page : 363 pages
File Size : 12,90 MB
Release : 2012-07-12
Category : Medical
ISBN : 0199811792
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 : Ruggero Caputo
Publisher : CRC Press
Page : 448 pages
File Size : 21,53 MB
Release : 2005-12-12
Category : Medical
ISBN : 1841842516
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fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date.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 :
Publisher : ScholarlyEditions
Page : 45 pages
File Size : 20,23 MB
Release : 2013-06-21
Category : Medical
ISBN : 148169667X
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 : Jürgen W. Spranger
Publisher : Oxford University Press, USA
Page : 929 pages
File Size : 38,16 MB
Release : 2018
Category : Medical
ISBN : 0190626658
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Author : Roger E. Stevenson
Publisher :
Page : 450 pages
File Size : 31,81 MB
Release : 2000
Category : Medical
ISBN :
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
Page : 1104 pages
File Size : 50,72 MB
Release : 2021-01-27
Category : Science
ISBN : 1119432677
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 : Lynn T. Staheli
Publisher : Cambridge University Press
Page : 302 pages
File Size : 12,83 MB
Release : 1998-04-28
Category : Medical
ISBN : 9780521571067
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.
Author : Carlo Sala
Publisher : Academic Press
Page : 396 pages
File Size : 40,50 MB
Release : 2016-04-30
Category : Medical
ISBN : 0128005335
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 : Dhavendra Kumar
Publisher : Oxford University Press
Page : 672 pages
File Size : 22,81 MB
Release : 2008-02-15
Category : Medical
ISBN : 0199720053
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Author : James C. Harris, M.D.
Publisher : Oxford University Press
Page : 237 pages
File Size : 26,89 MB
Release : 2010-06-24
Category : Medical
ISBN : 019977966X
Approximately 2.5 million people in the United States--one percent of the population--have an intellectual disability (previously referred to as mental retardation). These conditions range from genetic disorders such as Down syndrome to disabilities caused by infectious diseases and brain injury. Intellectual Disability: A Guide for Families and Professionals, by one of the country's foremost authorities on intellectual disability, is a comprehensive resource that will be of importance to anyone with a personal connection to a child or adult with a neurodevelopmental disorder. Emphasizing the humanity of persons with intellectual and related developmental disabilities, psychiatrist and pediatrician James Harris provides essential information on assessment and diagnosis of intellectual disability, treatments for specific disorders, and ways to take advantage of the wide array of services available today. The focus throughout is on the development of the person, the positive supports necessary for self-determination, and, to the extent possible, independent decision making. Harris also surveys historical attitudes toward intellectual disability, the medical community's current understanding of its causes and frequency, and the associated physical, behavioral, and psychiatric conditions (such as seizure disorder, depression, and autism) that often accompany particular types of intellectual disability. The book addresses legal, medical, mental health, and research-related issues as well as matters of spirituality, highlighting the ways in which individuals with intellectual disability can meaningfully participate in the spiritual lives of their families and their communities. Each chapter ends with a series of key points to remember, and the book concludes with a list of additional resources of further interest. Intellectual Disability is a must-read for parents and families of those with neurodevelopmental disorders, providing guidance and essential information to help their family members effectively, and to make a significant, positive difference in their lives now and in the future.
