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| Author | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : |
| Release | : 2020 |
| Genre | : Autism |
| ISBN | : 9781911612384 |
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.
| Author | : John C. Carey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1104 |
| Release | : 2021-01-27 |
| Genre | : Science |
| ISBN | : 1119432677 |
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.
| Author | : Randi Hagerman |
| Publisher | : Mac Keith Press |
| Total Pages | : 660 |
| Release | : 2020-12-21 |
| Genre | : Medical |
| ISBN | : 9781911612377 |
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.
| Author | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : |
| Release | : 2020 |
| Genre | : Autism |
| ISBN | : 9781911612407 |
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.
| Author | : Simon Shorvon |
| Publisher | : Cambridge University Press |
| Total Pages | : 1013 |
| Release | : 2019-05-02 |
| Genre | : Medical |
| ISBN | : 1108420753 |
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
| Author | : Flora Tassone |
| Publisher | : Springer |
| Total Pages | : 296 |
| Release | : 2016-11-17 |
| Genre | : Medical |
| ISBN | : 3319338986 |
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.
| Author | : Anne Skomorowsky |
| Publisher | : Columbia University Press |
| Total Pages | : 118 |
| Release | : 2022-05-03 |
| Genre | : Medical |
| ISBN | : 0231552289 |
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.
| Author | : Kay E. Davies |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 150 |
| Release | : 1989 |
| Genre | : Language Arts & Disciplines |
| ISBN | : |
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.
| Author | : Jacob Peedicayil |
| Publisher | : Academic Press |
| Total Pages | : 848 |
| Release | : 2021-08-21 |
| Genre | : Science |
| ISBN | : 0128235780 |
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
| Author | : Judith M. Rumsey |
| Publisher | : Cambridge University Press |
| Total Pages | : 473 |
| Release | : 2009-02-19 |
| Genre | : Medical |
| ISBN | : 1139476750 |
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.
