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Understanding Fragile X Syndrome
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Book Synopsis Understanding Fragile X Syndrome by : Isabel Fernández Carvajal
Download or read book Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and published by Jessica Kingsley Publishers. This book was released on 2011 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis The Fragile X Syndrome by : Kay E. Davies
Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala
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
Book Synopsis Fragile X Syndrome by : Rob Willemsen
Download or read book Fragile X Syndrome written by Rob Willemsen and published by Academic Press. This book was released on 2017-05-26 with total page 498 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book The Carriers written by Anne Skomorowsky and published by Columbia University Press. This book was released on 2022-05-03 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.
Book Synopsis The Causes of Epilepsy by : Simon Shorvon
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Book Synopsis Children with Fragile X Syndrome by : Jayne Dixon Weber
Download or read book Children with Fragile X Syndrome written by Jayne Dixon Weber and published by . This book was released on 2000 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is believed to be the most common genetic cause of mental retardation, even more common than Down syndrome. It can result in a wide range of developmental delays, learning disabilities, and physical characteristics -- which all tend to be more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The first and only book of its kind, this book provides a complete, sensitive introduction to fragile X syndrome, an inherited, genetic condition caused by a mutation on the X-chromosome. This new guide is written by an experienced, caring group of parents, doctors, therapists, and teachers, who offer an in-depth look at the issues and concerns affecting children and their families.
Book Synopsis Epigenetics in Psychiatry by : Jacob Peedicayil
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field
Book Synopsis Neuroimaging in Developmental Clinical Neuroscience by : Judith M. Rumsey
Download or read book Neuroimaging in Developmental Clinical Neuroscience written by Judith M. Rumsey and published by Cambridge University Press. This book was released on 2009-02-19 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: Modern neuroimaging offers tremendous opportunities for gaining insights into normative development and a wide array of developmental neuropsychiatric disorders. Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children. This book will enable you to understand normative structural and functional brain maturation and the mechanisms underlying basic developmental processes; become familiar with current knowledge and hypotheses concerning the neural bases of developmental neuropsychiatric disorders; and learn about neuroimaging techniques, including their unique strengths and limitations. Coverage includes normal developmental processes, atypical processing in developmental neuropsychiatric disorders, ethical issues, neuroimaging techniques and their integration with psychopharmacologic and molecular genetic research approaches, and future directions. This comprehensive volume is an essential resource for neurologists, neuropsychologists, psychiatrists, pediatricians, and radiologists concerned with normal development and developmental neuropsychiatric disorders.
Book Synopsis Educating Children with Fragile X Syndrome by : Denise Dew-Hughes
Download or read book Educating Children with Fragile X Syndrome written by Denise Dew-Hughes and published by Routledge. This book was released on 2003-12-16 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.
Book Synopsis Fragile-X Syndrome by : Dalit Ben-Yosef
Download or read book Fragile-X Syndrome written by Dalit Ben-Yosef and published by Humana Press. This book was released on 2019-03-08 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Fragile X Syndrome and Premutation Disorders by : Randi Hagerman
Download or read book Fragile X Syndrome and Premutation Disorders written by Randi Hagerman and published by Mac Keith Press. This book was released on 2020-12-21 with total page 660 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Fragile X Syndrome by : Randi Jenssen Hagerman
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Book Synopsis Fragile X Syndrome by : Suzanne Saunders
Download or read book Fragile X Syndrome written by Suzanne Saunders and published by Routledge. This book was released on 2013-10-18 with total page 127 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 advice that will help teachers to understand the child with Fragile X and encourage maximum educational progress. / While the book is aimed at teachers, it is also an excellent resource for parents, therapists and any professional working with a child who has Fragile X.
Book Synopsis Fragile X, Fragile Hope by : Elizabeth Griffin
Download or read book Fragile X, Fragile Hope written by Elizabeth Griffin and published by YWAM Publishing. This book was released on 2004 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by a mother whose son has fragile X syndrome and autism this book is about her reaction and coping strategies in relating to her son. She openly discusses working through her grief, anger and fears that her son's diagnosis brought and reinforces that it is possible to survive and find joy in parenting a special needs child.
Book Synopsis Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome by : Joanne Erwick Roberts
Download or read book Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome written by Joanne Erwick Roberts and published by CLI. This book was released on 2008 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
