The Source For Fragile X Syndrome

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The Fragile X Syndrome

Author : Kay E. Davies
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 150 pages
Book Rating : 4.3/5 (91 download)

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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.

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Author : Carlo Sala
Publisher : Academic Press
ISBN 13 : 0128005335
Total Pages : 396 pages
Book Rating : 4.1/5 (28 download)

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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 396 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

Fragile X Syndrome

Author : Rob Willemsen
Publisher : Academic Press
ISBN 13 : 0128045078
Total Pages : 500 pages
Book Rating : 4.1/5 (28 download)

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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 500 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. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018) - 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

Epigenetics in Psychiatry

Author : Jacob Peedicayil
Publisher : Academic Press
ISBN 13 : 0128235780
Total Pages : 848 pages
Book Rating : 4.1/5 (282 download)

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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

Fragile X Syndrome

Author : Randi Jenssen Hagerman
Publisher :
ISBN 13 : 9780801853883
Total Pages : 481 pages
Book Rating : 4.8/5 (538 download)

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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

Fragile X, Fragile Hope

Author : Elizabeth Griffin
Publisher : YWAM Publishing
ISBN 13 : 9781932096163
Total Pages : 116 pages
Book Rating : 4.0/5 (961 download)

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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.

Outcomes in Neurodevelopmental and Genetic Disorders

Author : Patricia Howlin
Publisher : Cambridge University Press
ISBN 13 : 9780521797214
Total Pages : 306 pages
Book Rating : 4.7/5 (972 download)

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Book Synopsis Outcomes in Neurodevelopmental and Genetic Disorders by : Patricia Howlin

Download or read book Outcomes in Neurodevelopmental and Genetic Disorders written by Patricia Howlin and published by Cambridge University Press. This book was released on 2002-07-25 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Succinct, up-to-date research summaries and practical guidelines for intervention in and management of a variety of developmental and genetic disorders.

Handbook of Pragmatic Language Disorders

Author : Louise Cummings
Publisher : Springer Nature
ISBN 13 : 3030749851
Total Pages : 729 pages
Book Rating : 4.0/5 (37 download)

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Book Synopsis Handbook of Pragmatic Language Disorders by : Louise Cummings

Download or read book Handbook of Pragmatic Language Disorders written by Louise Cummings and published by Springer Nature. This book was released on 2021-09-22 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference work is the first to examine pragmatic language disorders of clients in complex and underserved populations. In chapters written by a range of experts, the unique pragmatic language skills of clients are examined, allowing for a broad overview. The text gives focus to client groups with complex cognitive and psychiatric problems and children and adults that have been underserved by clinical language services because of maltreatment and social exclusion. Pragmatic disorders are examined in children with sensory loss, children who have been exposed to HIV and substance abuse, and adults with Huntington's disease and other complex neurodegenerative pathologies. This Handbook is an essential reference for researchers and clinicians in speech-language pathology, linguistics, psychology, and education.

Fragile-X Syndrome

Author : Dalit Ben-Yosef
Publisher : Humana Press
ISBN 13 : 9781493990795
Total Pages : 192 pages
Book Rating : 4.9/5 (97 download)

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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.

Educating Children with Fragile X Syndrome

Author : Denise Dew-Hughes
Publisher : Routledge
ISBN 13 : 1134378106
Total Pages : 272 pages
Book Rating : 4.1/5 (343 download)

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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 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Behavioural Phenotypes

Author : Gregory O'Brien
Publisher : Cambridge University Press
ISBN 13 : 9781898683063
Total Pages : 236 pages
Book Rating : 4.6/5 (83 download)

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Book Synopsis Behavioural Phenotypes by : Gregory O'Brien

Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Increasing interest over recent years in the study of the influences of environment and genetic factors on behavioural disorder has come from a wide range of disciplines. These studies have subsequently been focused through the foundation of the Society for the Study of Behavioural Phenotypes, which forms the basis for assimilating new information and coordinating future research in this field. This volume from founder members of the society presents a distillation of thinking and reviews appropriate measurement schedules. Including research findings, explanation of concepts, genetic scientific techniques and methodological issues, this work will be welcomed by those with an interest in behavioural disorder at every level.

The Source for Fragile X Syndrome

Author : Gail Harris-Schmidt
Publisher :
ISBN 13 :
Total Pages : 170 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis The Source for Fragile X Syndrome by : Gail Harris-Schmidt

Download or read book The Source for Fragile X Syndrome written by Gail Harris-Schmidt and published by . This book was released on 2004 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Atlas of X-Linked Intellectual Disability Syndromes

Author : Roger E. Stevenson
Publisher : Oxford University Press
ISBN 13 : 0199811792
Total Pages : 363 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Atlas of X-Linked Intellectual Disability Syndromes by : Roger E. Stevenson

Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Males With Eating Disorders

Author : Arnold E. Andersen
Publisher : Routledge
ISBN 13 : 1317839234
Total Pages : 276 pages
Book Rating : 4.3/5 (178 download)

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Book Synopsis Males With Eating Disorders by : Arnold E. Andersen

Download or read book Males With Eating Disorders written by Arnold E. Andersen and published by Routledge. This book was released on 2014-06-17 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: First published in 1990. The subject of anorexia nervosa and, more recently, bulimia nervosa in males has been a source of interest and controversy in the fields of psychiatry and medicine for more than 300 years. These disorders, sometimes called eating disorders, raise basic questions concerning the nature of abnormalities of the motivated behaviors: Are they subsets of more widely recognized illnesses such as mood disorders? Are they understandable by reference to underlying abnormalities of biochemistry or brain function? In what ways are they similar to and in what ways do they differ from anorexia nervosa and bulimia nervosa in females? This book will be of interest to a wide variety of people—physicians, psychologists, nurses, social workers, occupational therapists, nutritionists, educators, and all others who may be interested for personal or professional reasons.

The Source Development of Executive Functions

Author : Jill K. Fahy
Publisher : Pro-Ed
ISBN 13 : 9781416410775
Total Pages : pages
Book Rating : 4.4/5 (17 download)

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Book Synopsis The Source Development of Executive Functions by : Jill K. Fahy

Download or read book The Source Development of Executive Functions written by Jill K. Fahy and published by Pro-Ed. This book was released on 2017-02-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Understanding Fragile X Syndrome

Author : Isabel Fernández Carvajal
Publisher : Jessica Kingsley Publishers
ISBN 13 : 0857004379
Total Pages : 114 pages
Book Rating : 4.8/5 (57 download)

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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 2011-08-15 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. 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.

Autism Spectrum Disorders

Author : Andreas M. Grabrucker
Publisher :
ISBN 13 :
Total Pages : 117 pages
Book Rating : 4.:/5 (128 download)

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Book Synopsis Autism Spectrum Disorders by : Andreas M. Grabrucker

Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.