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Fragile X Syndrome

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Fragile X Syndrome

Fragile X Syndrome Book
Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : JHU Press
Release : 2002-05-17
ISBN : 9780801868436
Language : En, Es, Fr & De

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Book Description :

"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

Understanding Fragile X Syndrome

Understanding Fragile X Syndrome Book
Author : Isabel Fernández Carvajal,David Aldridge
Publisher : Jessica Kingsley Publishers
Release : 2011-08-15
ISBN : 9780857004376
Language : En, Es, Fr & De

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Book Description :

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. 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. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.

Modeling Fragile X Syndrome

Modeling Fragile X Syndrome Book
Author : Robert B. Denman
Publisher : Springer Science & Business Media
Release : 2011-10-20
ISBN : 3642216498
Language : En, Es, Fr & De

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Book Description :

Introduction.-Probing Astrocyte Function in Fragile X Syndrome.- Neural Stem Cells.- Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System.– The Role of the Postsynaptic Density in the Pathology of the Fragile X Syndrome.- Behavior in a Drosophila model of Fragile X.- Molecular and Genetic Analysis of the Drosophila Model of Fragile X Syndrome.- Fragile X Mental Retardation Protein and Stem Cells.- Manipulating the Fragile X Mental Retardation Proteins in the Frog.- Exploring the Zebra finch Taeniopygia gutta as a Novel Animal Model for the Speech-language Deficit of Fragile X Syndrome.- Neuroendocrine Alterations in the Fragile X Mouse.- Taking STEPs forward to understanding Fragile X Syndrome.- Fmr-1 as an Offspring Genetic and a Maternal Environmental Factor in Neurodevelopmental Disease.- Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome.- Clinical Aspects of the Fragile X Syndrome.- Fragile X Syndrome: A Psychiatric Perspective.- Fragile X Syndrome and Targeted Treatment Trials.- The Fragile X-associate Tremor Ataxia Syndrome.- Vignettes: Models in Absentia.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Dalit Ben-Yosef,Yoav Mayshar
Publisher : Humana Press
Release : 2019-03-08
ISBN : 9781493990795
Language : En, Es, Fr & De

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Book Description :

This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

The Source for Fragile X Syndrome

The Source for Fragile X Syndrome Book
Author : Gail Harris-Schmidt,Dale Eugene Fast
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The Source for Fragile X Syndrome book written by Gail Harris-Schmidt,Dale Eugene Fast, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Fragile X Syndrome and Premutation Disorders

Fragile X Syndrome and Premutation Disorders Book
Author : Randi Hagerman,Paul Hagerman
Publisher : Mac Keith Press
Release : 2020-12-21
ISBN : 9781911612377
Language : En, Es, Fr & De

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Book Description :

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, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.

Behavior and Development in Fragile X Syndrome

Behavior and Development in Fragile X Syndrome Book
Author : Elisabeth Dykens,Robert M. Hodapp,James F. Leckman
Publisher : SAGE Publications, Incorporated
Release : 1994
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Fragile X Syndrome is estimated to cause 10 per cent of all mental retardation and to be significantly linked to childhood autism. This volume provides a coherent, comprehensive overview of the disorder. The authors are leaders in the field and their approaches span the range of biological and psychological perspectives. The prevalence and historical roots of the Syndrome are examined, as are the wide range of symptomatic behaviours. Recommendations for intervention and treatment are discussed and current scientific findings are presented in a way that makes them accessible to a wide range of readers, including clinicians, teachers and parents.

Sexuality and Fragile X Syndrome

Sexuality and Fragile X Syndrome Book
Author : National Fragile X Foundation
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

An overview for parents, families, and professionals that addresses sex education and sexuality issues related to fragile X syndrome.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Rob Willemsen,Frank Kooy
Publisher : Academic Press
Release : 2017-05-26
ISBN : 0128045078
Language : En, Es, Fr & De

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Book Description :

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

Boys with Fragile X Syndrome

Boys with Fragile X Syndrome Book
Author : Rebecca O'Connor
Publisher : Unknown
Release : 1995
ISBN : 9780964735507
Language : En, Es, Fr & De

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Book Description :

Download Boys with Fragile X Syndrome book written by Rebecca O'Connor, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Molecular Basis of Fragile X Syndrome

The Molecular Basis of Fragile X Syndrome Book
Author : Ying Ju Sung,Robert B. Denman
Publisher : Unknown
Release : 2005-01-01
ISBN : 9788177362572
Language : En, Es, Fr & De

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Book Description :

Download The Molecular Basis of Fragile X Syndrome book written by Ying Ju Sung,Robert B. Denman, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Autism Profiles of Young Males with Fragile X Syndrome

Autism Profiles of Young Males with Fragile X Syndrome Book
Author : Susan Wood Harris
Publisher : Unknown
Release : 2008
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Autism Profiles of Young Males with Fragile X Syndrome book written by Susan Wood Harris, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Gender Differences in Repetitive Language Among Adolescents with Fragile X Syndrome

Gender Differences in Repetitive Language Among Adolescents with Fragile X Syndrome Book
Author : Melissa M. Pavetto
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Gender Differences in Repetitive Language Among Adolescents with Fragile X Syndrome book written by Melissa M. Pavetto, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Speech Language Development Intervention in Down Syndrome Fragile X Syndrome

Speech   Language Development   Intervention in Down Syndrome   Fragile X Syndrome Book
Author : Joanne Erwick Roberts,Robin S. Chapman,Steven F. Warren
Publisher : Brookes Pub
Release : 2008
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.

Fragile X Syndrome

Fragile X Syndrome Book
Author : Craig Lannes,Northeastern Illinois University. Department of Special Education
Publisher : Unknown
Release : 1990
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Fragile X Syndrome book written by Craig Lannes,Northeastern Illinois University. Department of Special Education, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Towards Mechanism based Treatments for Fragile X Syndrome

Towards Mechanism based Treatments for Fragile X Syndrome Book
Author : Inbal Gazy,Daman Kumari
Publisher : Unknown
Release : 2019
ISBN : 9783039215065
Language : En, Es, Fr & De

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Book Description :

It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.

Cystic Fibrosis and DNA Tests

Cystic Fibrosis and DNA Tests Book
Author : Anonim
Publisher : Office of Technology Assessment
Release : 1992
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cystic Fibrosis and DNA Tests book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Supporting Children with Fragile X Syndrome

Supporting Children with Fragile X Syndrome Book
Author : Hull Learning Services
Publisher : Routledge
Release : 2014-07-10
ISBN : 1134021933
Language : En, Es, Fr & De

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Book Description :

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

Educating Children with Fragile X Syndrome

Educating Children with Fragile X Syndrome Book
Author : Denise Dew-Hughes
Publisher : Routledge
Release : 2003-12-16
ISBN : 1134378106
Language : En, Es, Fr & De

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Book Description :

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 book suggests practical intervention strategies, based on sound educational principles expressed in clear non-specific terms. A range of important topics are considered, including: * the physical and behavioural characteristics of Fragile X * the effects of Fragile X on learning * medication and therapy * related conditions such as autism and attention deficit disorders. Breaking down the barriers of professional practice, this book establishes the groundwork for successful and valuable multi-professional teamwork. By providing immediate access to a body of empirical knowledge and advice from other disciplines, it will encourage teachers to incorporate this approach into their own practice. Everyone responsible for the education of a child with Fragile X syndrome should read this book.