Download or read book Allelic Forms of the FMR1 Gene written by Montserrat Milà and published by Nova Science Publishers. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counselling, new-born screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counselling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.
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.
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
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
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
Download or read book Molecular Evolution written by Roderick D.M. Page and published by John Wiley & Sons. This book was released on 2009-07-14 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: The study of evolution at the molecular level has given the subject of evolutionary biology a new significance. Phylogenetic 'trees' of gene sequences are a powerful tool for recovering evolutionary relationships among species, and can be used to answer a broad range of evolutionary and ecological questions. They are also beginning to permeate the medical sciences. In this book, the authors approach the study of molecular evolution with the phylogenetic tree as a central metaphor. This will equip students and professionals with the ability to see both the evolutionary relevance of molecular data, and the significance evolutionary theory has for molecular studies. The book is accessible yet sufficiently detailed and explicit so that the student can learn the mechanics of the procedures discussed. The book is intended for senior undergraduate and graduate students taking courses in molecular evolution/phylogenetic reconstruction. It will also be a useful supplement for students taking wider courses in evolution, as well as a valuable resource for professionals. First student textbook of phylogenetic reconstruction which uses the tree as a central metaphor of evolution. Chapter summaries and annotated suggestions for further reading. Worked examples facilitate understanding of some of the more complex issues. Emphasis on clarity and accessibility.
Download or read book Health Effects of Exposure to Low Levels of Ionizing Radiation written by National Research Council and published by National Academies. This book was released on 1990-02-01 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.
Download or read book Fetal Medicine written by Bidyut Kumar and published by Cambridge University Press. This book was released on 2016-04-07 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine.
Download or read book Epigenetics in Human Disease written by Trygve Tollefsbol and published by Academic Press. This book was released on 2012-07-26 with total page 617 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs
Download or read book Genetics of Human Infertility written by P.H. Vogt and published by Karger Medical and Scientific Publishers. This book was released on 2017-09-12 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.
Download or read book Trinucleotide Repeat Protocols written by Yoshinori Kohwi and published by Springer Science & Business Media. This book was released on 2008-02-03 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.
Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer Science & Business Media. This book was released on 2013-03-26 with total page 562 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.
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.
Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti
Download or read book Sleep in Children with Neurodevelopmental Disabilities written by Jennifer A. Accardo and published by Springer. This book was released on 2018-12-13 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical guide presents approaches to working with children and adolescents with neurodevelopmental disabilities who have sleep problems. Divided into four sections, the book begins with the impact of sleep problems in children with disabilities and the evaluation of sleep complaints. The next two sections cover the major categories of sleep disorders as they apply in children with disabilities, and specific neurodevelopmental disabilities with their characteristic sleep manifestations. The last section details options for treatment, which include behavioral and environmental strategies, occupational therapy, exercise, and medications. Chapters feature case studies that introduce and reinforce diagnostic and therapeutic approaches. Those engaged in the care of children with neurodevelopmental disabilities and sleep problems will find this text to be an invaluable guide when assessing and treating sleep disorders.
Download or read book Hereditary Effects of Radiation written by United Nations. Scientific Committee on the Effects of Atomic Radiation and published by The Committee. This book was released on 2001 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2001 report completed a comprehensive review of the risks to offspring following parental exposure to radiation. The review included an evaluation of those diseases which have both hereditary and environmental components. The major finding is that the total hereditary risk to the first generation following radiation is less than one tenth of the risk of fatal carcinogenesis following irrradiation. The Committee concluded that a sounder basis now exists for estimating the hereditary risks of radiation exposure. This is due to advances in molecular genetics, and in the evaluation of multifactorial diseases, such as coronary heart disease.
Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
