Noonan Syndrome And Related Disorders
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Noonan Syndrome And Related Disorders
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Author : Martin Zenker
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2009
Noonan Syndrome And Related Disorders written by Martin Zenker and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with Medical categories.
In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
Noonan Syndrome New Insights For The Healthcare Professional 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-10
Noonan Syndrome New Insights For The Healthcare Professional 2012 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-10 with Medical categories.
Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Exploring Links Between Genes And Behavior In Noonan Syndrome And Related Genetic Disorders
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Author : Elizabeth Irene Pierpont
language : en
Publisher:
Release Date : 2009
Exploring Links Between Genes And Behavior In Noonan Syndrome And Related Genetic Disorders written by Elizabeth Irene Pierpont and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009 with categories.
Noonan Syndrome
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Author : Stephen von Tetzchner
language : en
Publisher:
Release Date : 1998
Noonan Syndrome written by Stephen von Tetzchner and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with categories.
Cassidy And Allanson S Management Of Genetic Syndromes
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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.
Inborn Errors Of Development
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Author : Charles J. Epstein
language : en
Publisher: Oxford University Press, USA
Release Date : 2004
Inborn Errors Of Development written by Charles J. Epstein and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Management Of Genetic Syndromes
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Author : Suzanne B. Cassidy
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-20
Management Of Genetic Syndromes written by Suzanne B. Cassidy and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-20 with Medical categories.
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Noonan Syndrome New Insights For The Healthcare Professional 2011 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09
Noonan Syndrome New Insights For The Healthcare Professional 2011 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-09 with Medical categories.
Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Nord Guide To Rare Disorders
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Author : National Organization for Rare Disorders
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2003
Nord Guide To Rare Disorders written by National Organization for Rare Disorders and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Pediatric Neurogastroenterology
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Author : Christophe Faure
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-21
Pediatric Neurogastroenterology written by Christophe Faure and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-21 with Medical categories.
Neurogastroenterology is devoted to "study the interface of all aspects of the digestive system with the different branches of the nervous system". Over the past 15 years advances in this field has greatly improved our understanding in primary functional and motility disorders in children. Neurogastroenterology has also begun to revolutionize our vision of "organic" diseases like inflammatory bowel disease, obesity, diabetes as well as microbial-host interactions. Major advances have also been achieved during these years in the knowledge of mechanisms of development of the enteric nervous system at the molecular level allowing a better understanding of diseases related to developmental anomalies and opening perspectives to new treatments with stem cells. Pediatric Neurogastroenterology: Gastrointestinal Motility and Functional Disorders in Children is dedicated to report the most accurate and recent knowledge in the field. Written by the world-renown experts, the book covers the field by providing a comprehensive and up-to-date review and practical guide to pediatric gastrointestinal motility and functional disorders for pediatricians, pediatric gastroenterologists, adult gastroenterologists and all professionals involved in the treatment of children with such disorders.