Fragile X Syndrome

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  • Publisher : Academic Press
  • Release : 26 May 2017
  • ISBN : 9780128045077
  • Page : 498 pages
  • Rating : 4.5/5 from 103 voters

Fragile X Syndrome Book PDF summary

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians

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Fragile X Syndrome

Fragile X Syndrome
  • Author : Rob Willemsen,Frank Kooy
  • Publisher : Academic Press
  • Release Date : 2017-05-26
  • ISBN : 9780128045077
DOWNLOAD BOOKFragile X Syndrome

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research

The Fragile X Syndrome

The Fragile X Syndrome
  • Author : Kay E. Davies
  • Publisher : Oxford University Press, USA
  • Release Date : 1989
  • ISBN : UOM:39015015056412
DOWNLOAD BOOKThe Fragile X Syndrome

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

Understanding Fragile X Syndrome

Understanding Fragile X Syndrome
  • Author : Isabel Fernández Carvajal,David Aldridge
  • Publisher : Jessica Kingsley Publishers
  • Release Date : 2011
  • ISBN : 9781843109914
DOWNLOAD BOOKUnderstanding Fragile X Syndrome

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome.

Supporting Children with Fragile X Syndrome

Supporting Children with Fragile X Syndrome
  • Author : Hull Learning Services
  • Publisher : Routledge
  • Release Date : 2014-07-10
  • ISBN : 9781134021864
DOWNLOAD BOOKSupporting Children with Fragile X Syndrome

Off-the-shelf support containing all the vital information practitioners need to know about Fragile X Syndrome, this book includes: * Definition of Fragile X Syndrome and its educational implications * Ideas on how to improve access to the curriculum * Advice on how to manage support staff * Guidance on coordinating home and school liaison

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
  • Author : Flora Tassone,Elizabeth M. Berry-Kravis
  • Publisher : Springer Science & Business Media
  • Release Date : 2010-06-02
  • ISBN : 1441958053
DOWNLOAD BOOKThe Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

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

Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes
  • Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
  • Publisher : John Wiley & Sons
  • Release Date : 2021-01-27
  • ISBN : 9781119432678
DOWNLOAD BOOKCassidy and Allanson's 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, 4th 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 for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly

The Causes of Epilepsy

The Causes of Epilepsy
  • Author : Simon D. Shorvon,Frederick Andermann,Renzo Guerrini
  • Publisher : Cambridge University Press
  • Release Date : 2011-04-14
  • ISBN : 9781139495783
DOWNLOAD BOOKThe Causes of Epilepsy

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

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
  • Author : Carlo Sala,Chiara Verpelli
  • Publisher : Academic Press
  • Release Date : 2016-04-30
  • ISBN : 9780128005330
DOWNLOAD BOOKNeuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

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.

Educating Children with Fragile X Syndrome

Educating Children with Fragile X Syndrome
  • Author : Denise Dew-Hughes
  • Publisher : Routledge
  • Release Date : 2003-12-16
  • ISBN : 9781134378104
DOWNLOAD BOOKEducating Children with Fragile X Syndrome

What is Fragile X? The most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety. What can teachers do to help children with Fragile X become more effective learners? This definitive text will provide essential support and information for teachers with the expertise of an international field of researchers, whose variety of perspectives contribute to a unique, multi-professional approach. Each chapter of the

Fragile X Syndrome and Premutation Disorders

Fragile X Syndrome and Premutation Disorders
  • Author : Randi Hagerman,Paul Hagerman
  • Publisher : Mac Keith Press
  • Release Date : 2020-12-21
  • ISBN : 1911612379
DOWNLOAD BOOKFragile X Syndrome and Premutation Disorders

This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted,

Fragile X Syndrome

Fragile X Syndrome
  • Author : Suzanne Saunders
  • Publisher : Routledge
  • Release Date : 2013-10-18
  • ISBN : 9781134102297
DOWNLOAD BOOKFragile X Syndrome

Fragile X Syndrome is thought to be the most common inherited cause of learning difficulties. However many people have never heard of it and those who have, including many of the professionals who work with those affected by it, have little knowledge or understanding of the condition. This book brings up to date research with information and advice from teachers who are discovering, first hand, the best ways of educating children with Fragile X. It is much needed support and

The Carriers

The Carriers
  • Author : Anne Skomorowsky
  • Publisher : Columbia University Press
  • Release Date : 2022-05-03
  • ISBN : 9780231552288
DOWNLOAD BOOKThe Carriers

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all

The Broken Toy

The Broken Toy
  • Author : Marilyn Morgan
  • Publisher : AuthorHouse
  • Release Date : 2005-04
  • ISBN : 9781420829501
DOWNLOAD BOOKThe Broken Toy

J. G. Morris' works of poetry are based on personal life experiences which was a source of therapy in dealing with personal tragedy in later years. Writing poetry, short stories and song writing gave her a chance to expand the many facets of her creativity by producing a book full of fictional and non-fictional imagination. Her philosophy of inspirations were three reasons: "Life in general, the lives of fascinating people, and good old-fashioned imagination, period!" Reflections in a Waterpool, Dripping

The Zuckerman Parker Handbook of Developmental and Behavioral Pediatrics for Primary Care

The Zuckerman Parker Handbook of Developmental and Behavioral Pediatrics for Primary Care
  • Author : Marilyn Augustyn,Barry S. Zuckerman,Elizabeth B. Caronna
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2010-09-29
  • ISBN : 9781608319145
DOWNLOAD BOOKThe Zuckerman Parker Handbook of Developmental and Behavioral Pediatrics for Primary Care

The thoroughly updated Third Edition of this popular handbook provides practical guidance on diagnosing and treating children with developmental and behavioral problems in the primary care setting. Chapters written in outline format address topics ranging from everyday problems such as biting and social avoidance to serious and complex psychiatric disorders such as anorexia and depression. This edition includes new chapters on dealing with difficult child behavior in the office; alternative therapy for autism spectrum disorders; treatment of autism spectrum disorders;

Fragile X Syndrome

Fragile X Syndrome
  • Author : Randi Jenssen Hagerman
  • Publisher : Unknown
  • Release Date : 1996
  • ISBN : 0801853885
DOWNLOAD BOOKFragile X Syndrome

This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic