The Fragile X Associated Tremor Ataxia Syndrome Fxtas
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Cassidy And Allanson S Management Of Genetic Syndromes
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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.
The Fragile X Associated Tremor Ataxia Syndrome Fxtas
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Author : Flora Tassone
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-06-02
The Fragile X Associated Tremor Ataxia Syndrome Fxtas written by Flora Tassone and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-06-02 with Medical categories.
In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
The Causes Of Epilepsy
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Author : Simon D. Shorvon
language : en
Publisher: Cambridge University Press
Release Date : 2011-04-14
The Causes Of Epilepsy written by Simon D. Shorvon and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-14 with Medical categories.
Causation is an aspect of epilepsy neglected in the scientific literature and in the conceptualization of epilepsy at a clinical and experimental level. It was to remedy this deficiency that this book was conceived. The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into four etiological categories: idiopathic, symptomatic, cryptogenic, and provoked epilepsies. Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment. The book is a comprehensive reference work, a catalogue of all important causes of epilepsy, and a clinical tool for all clinicians dealing with patients who have epilepsy. It is aimed at epileptologists and neurologists and provides a distillation of knowledge in a form that is helpful in the clinical setting.
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
Cerebellar Disorders
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Author : Mario Ubaldo Manto
language : en
Publisher: Cambridge University Press
Release Date : 2010-03-25
Cerebellar Disorders written by Mario Ubaldo Manto and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-03-25 with Medical categories.
During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
Medical Genetics For The Mrcog And Beyond
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Author : Edward S. Tobias
language : en
Publisher: Cambridge University Press
Release Date : 2014-03-20
Medical Genetics For The Mrcog And Beyond written by Edward S. Tobias and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-03-20 with Medical categories.
Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.
Fragile X Spectrum Disorders
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Author : Randi Jenssen Hagerman
language : en
Publisher: Frontiers Media SA
Release Date : 2022-08-29
Fragile X Spectrum Disorders written by Randi Jenssen Hagerman and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-08-29 with Science categories.
Ataxic Disorders
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Author : Sankara H. Subramony
language : en
Publisher: Elsevier
Release Date : 2011-09-21
Ataxic Disorders written by Sankara H. Subramony and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-21 with Medical categories.
This volume's primary goal is to provide a comprehensive understanding of recent developments and advancements in the study of ataxic disorders. Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies and neurological manifestations of ataxic disorders. Clinicians will gain a broader understanding of generative ataxias and the genetic disorders associated with them. In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease
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Author : Roger N. Rosenberg
language : en
Publisher: Academic Press
Release Date : 2020-06-24
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease written by Roger N. Rosenberg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-24 with Medical categories.
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. - Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease - Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain - Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
Fxtas
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Author : National Fragile X Foundation
language : en
Publisher:
Release Date : 2004*
Fxtas written by National Fragile X Foundation and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004* with Ataxia categories.