The Fragile Bachelor

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The Fragile Bachelor

Author : Gerald Nachman
Publisher : Unknown
Page : 228 pages
File Size : 40,7 Mb
Release : 1989
Category : Body, Mind & Spirit
ISBN : 0898152895

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The Fragile Bachelor by Gerald Nachman Pdf

Fragile X Syndrome

Author : Randi Jenssen Hagerman,Paul J. Hagerman
Publisher : JHU Press
Page : 562 pages
File Size : 54,9 Mb
Release : 2002-05-17
Category : Medical
ISBN : 0801868432

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Fragile X Syndrome by Randi Jenssen Hagerman,Paul J. Hagerman Pdf

Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.

Genetic Instabilities and Neurological Diseases

Author : Robert D. Wells,Tetsuo Ashizawa
Publisher : Elsevier
Page : 784 pages
File Size : 47,5 Mb
Release : 2011-10-13
Category : Medical
ISBN : 9780080463773

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Genetic Instabilities and Neurological Diseases by Robert D. Wells,Tetsuo Ashizawa Pdf

Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases

Modeling Fragile X Syndrome

Author : Robert B. Denman
Publisher : Springer Science & Business Media
Page : 392 pages
File Size : 49,6 Mb
Release : 2011-10-20
Category : Science
ISBN : 9783642216497

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Modeling Fragile X Syndrome by Robert B. Denman Pdf

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 Bachelor

Author : Gerald Nachman
Publisher : Unknown
Page : 128 pages
File Size : 43,6 Mb
Release : 1989-04-01
Category : Electronic
ISBN : 5550307561

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Fragile Bachelor by Gerald Nachman Pdf

Fragile X Spectrum Disorders

Author : Randi Jenssen Hagerman,David Hessl,Sarah Lippe,Francois Bolduc
Publisher : Frontiers Media SA
Page : 285 pages
File Size : 41,9 Mb
Release : 2022-08-29
Category : Science
ISBN : 9782889768554

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Fragile X Spectrum Disorders by Randi Jenssen Hagerman,David Hessl,Sarah Lippe,Francois Bolduc Pdf

The Fragile X Syndrome – Where Do We Go?

Author : Regina Dahlhaus,Christian Gonzalez-Billault
Publisher : Frontiers Media SA
Page : 255 pages
File Size : 55,7 Mb
Release : 2021-12-22
Category : Science
ISBN : 9782889718450

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The Fragile X Syndrome – Where Do We Go? by Regina Dahlhaus,Christian Gonzalez-Billault Pdf

Observations of a Bachelor

Author : Louis Lombard
Publisher : Unknown
Page : 198 pages
File Size : 44,7 Mb
Release : 1897
Category : Marriage
ISBN : HARVARD:HN6IKT

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Observations of a Bachelor by Louis Lombard Pdf

Understanding Autism

Author : Steven O. Moldin,John L R Rubenstein
Publisher : CRC Press
Page : 552 pages
File Size : 53,6 Mb
Release : 2006-04-25
Category : Science
ISBN : 9781420004205

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Understanding Autism by Steven O. Moldin,John L R Rubenstein Pdf

Taking an all-inclusive look at the subject, Understanding Autism: From Basic Neuroscience to Treatment reviews state-of-the-art research on the diagnosis, treatment, and prevention of autism. The book addresses potential mechanisms that may underlie the development of autism and the neural systems that are likely to be affected by these molecular, genetic, and infectious etiologies. It reviews key findings that inform diagnosis, epidemiology, clinical neuroscience, and treatment. The book concludes with a discussion of the economic cost of autism and provides a biomedical and public health perspective of the impact of this devastating disease. With chapters authored by clinical and basic researchers at the forefront of molecular and systems neuroscience, clinical neuroscience, and health economics, the book presents a powerful and comprehensive synthesis of current research on autism and its underlying neural substrates. The book's two editors are considered elite pioneers in this area of research. Dr. Rubenstein was recently elected to the highly prestigious Institute of the Medicine, an honor reserved for those most committed to professional achievement and public service.

Sertoli Cell Biology

Author : Michael K. Skinner,Michael D. Griswold
Publisher : Elsevier
Page : 512 pages
File Size : 50,6 Mb
Release : 2004-11-23
Category : Science
ISBN : 0080492282

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Sertoli Cell Biology by Michael K. Skinner,Michael D. Griswold Pdf

Sertoli cells assist in the production of sperm in the male reproductive system. This book provides a state-of-the-art update on the topic of sertoli cells and male reproduction. It addresses such highly topical areas as stem cells, genomics, and molecular genetics, as well as provides historical information on the discovery of this type of cell, and the pathophysiology of male infertility. * Presents the state-of-the-art research on topics such as stem cell research, transplantation and genomics * Includes contributions from leaders in the field, including several members of the National Academy of Science

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Author : Carlo Sala,Chiara Verpelli
Publisher : Academic Press
Page : 394 pages
File Size : 44,7 Mb
Release : 2016-04-30
Category : Medical
ISBN : 9780128005330

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Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by Carlo Sala,Chiara Verpelli Pdf

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

Chinese Middle Constructions

Author : Jiajuan Xiong
Publisher : Springer
Page : 290 pages
File Size : 48,5 Mb
Release : 2017-11-14
Category : Language Arts & Disciplines
ISBN : 9789811061875

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Chinese Middle Constructions by Jiajuan Xiong Pdf

This book defines Chinese middle constructions as generic constructions, with their highest syntactically saturated argument always understood as an arbitrary one. This working definition sets “middle construction” apart from “middle voice” in that it can be instantiated by various constructions in Chinese. By scrutinizing these constructions in the framework of Generative Syntax, the book concludes that their formation takes place at the lexical level, without resorting to any syntactic mechanisms and thus that Chinese falls into the category of “lexical middle languages”, which are in contrast to “syntactic middle languages”.

Genetically Modified Organisms and Genetic Engineering in Research and Therapy

Author : Pascale Piguet,P. Poindron,Philippe Poindron
Publisher : Karger Medical and Scientific Publishers
Page : 138 pages
File Size : 41,8 Mb
Release : 2012
Category : Science
ISBN : 9783805590655

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Genetically Modified Organisms and Genetic Engineering in Research and Therapy by Pascale Piguet,P. Poindron,Philippe Poindron Pdf

Genetically modified organisms (GMO) raise societal, political and ethical concerns. They inspire strong resistance or, conversely, enthusiastic assent. The aim of this publication is to give an overview of genetic engineering, starting with the history of the discovery of restriction enzymes continuing with technical aspects of transgenesis to its applications in research and ethical considerations. Be it the use of single engineered cells or GMO, these applications cover a broad array, ranging from disease-oriented research (but not only), to the promising perspectives of gene therapy. Historical and technical aspects give insights into the problems inherent to the creation of GMO, and illustrate the links and limits between genetic engineering, GMOs and gene therapy. A summary article in English and French structures the links between the different chapters and concepts. Scientists interested in genetic engineering of single cells or animal models, as well as in gene therapy, will find an up-to-date review on the use and perspectives of transgenesis. However, this publication is also recommended to the public interested in the definition of GMO, which encompasses a much broader array than the genetically modified crops covered by media.

Trinucleotide Diseases and Instability

Author : Ben A. Oostra
Publisher : Springer Science & Business Media
Page : 169 pages
File Size : 47,9 Mb
Release : 2013-06-05
Category : Science
ISBN : 9783540696803

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Trinucleotide Diseases and Instability by Ben A. Oostra Pdf

Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden tified in neurological disorders. There are ten possible trinucleotide repeats at the DNA level, but only 3 have been identified as being involved in human dis eases. The rather frequent occurence of triplet repeats in the human genome indicates that other loci subject to unstable expansions may be discovered. The identification of repeat instability and the identification of disease genes containing trinucleotide repeats has helped to answer intriguing questions. The diseases share the unusual characteristic of inheritance with increased disease severity in successive gernerations, a phenomenon called anticipation. Trinu cleotide repeat diseases are ideal subjects for direct testing because the muta tion is almost exclusively of the same type and there is an extremely low occur ance of new mutations in these diseases. The anticipation can now be explained by the correlation of increasing repeat length with increased disease serverity. It can be speculated that other neurological disorders showing anticipation will be caused by unstable repeats as well.

Neurodevelopmental Disorders

Author : Randi Jenssen Hagerman
Publisher : Oxford University Press
Page : 224 pages
File Size : 48,5 Mb
Release : 1999-09-16
Category : Medical
ISBN : 9780190284145

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Neurodevelopmental Disorders by Randi Jenssen Hagerman Pdf

Neurodevelopmental Disorders: Diagnosis and Treatment summarizes a vast body of literature concerning diagnosis and treatment for a variety of neurodevelopmental disorders, including both common and rare conditions. Throughout the book, Dr. Hagerman synthesizes treatment information for many disciplines that work together to provide multi-modality intervention. Psychopharmacological information and recommendations as well as the latest knowledge regarding genetic and diagnostic aspects of each disorder are explained in detail. And all chapters have one or more case studies to model the treatment recommendations, which are enhanced by extensive appendices reviewing educational programs, computer software, and supplementary reading. In addition, a detailed resource list of organizations, educational materials, and internet connections accompanies each chapter. This book not only integrates but also advances our knowledge of treatment, which is of prime importance for clinicians, therapists, educators, and parents.