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Cassidy And Allanson S Management Of Genetic Syndromes

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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.

Management Of Genetic Syndromes

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Author : Suzanne B. Cassidy
language : en
Publisher: John Wiley & Sons
Release Date : 2010-05-13

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 2010-05-13 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

Genetic Disorders And The Fetus

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Author : Aubrey Milunsky
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06

Genetic Disorders And The Fetus written by Aubrey Milunsky 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 2012-12-06 with Medical categories.

Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

Cassidy And Allanson S Management Of Genetic Syndromes

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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2020-10-07

X Y Chromosomal Variations

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Author : Carole A. Samango-Sprouse
language : en
Publisher: Biota Publishing
Release Date : 2016-10-11

X Y Chromosomal Variations written by Carole A. Samango-Sprouse and has been published by Biota Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-11 with Medical categories.

This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.

Management Of Prader Willi Syndrome

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Author : Merlin Butler
language : en
Publisher: Springer Science & Business Media
Release Date : 2006-10-11

Management Of Prader Willi Syndrome written by Merlin Butler 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 2006-10-11 with Medical categories.

Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Human Genetics And Genomics

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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-19

Human Genetics And Genomics written by Bruce R. Korf 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 2012-11-19 with Medical categories.

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Integrated Medical Sciences

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Author : Shantha Perera
language : en
Publisher: John Wiley & Sons
Release Date : 2007-06-05

Integrated Medical Sciences written by Shantha Perera 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 2007-06-05 with Medical categories.

This book is a concise, accessible problem-based approach to the subject using case scenarios to facilitate students taking their pre-clinical or basic sciences examinations. Using a family of characters in each case scenario, the text reflects the current changes in medical and biomedical science teaching that is increasingly moving towards a more integrated approach through-problem-based learning. The characters, all members of an extended family, appear in several scenarios and the student becomes familiar with their personalities and their disease processes. Each scenario covers the relevant anatomy, physiology, pathology, pharmacology, microbiology, immunology and biochemistry and enables the reader to grasp the key concepts of basic medical sciences in an integrated fashion. Key Features: Takes an integrated approach to the subject to reflect recent changes in medical and biomedical science curriculum Further Study sections to enhance understanding and enable the student to read around the subject Intended learning outcomes included at the beginning of each chapter Trigger Boxes containing key facts and revision questions included throughout to ensure key concepts are fully understood Integrated Medical Sciences: The Essentials is an essential text for first and second year undergraduates taking medical or biomedical sciences (during the pre-clinical phase for medical students.). The book is also an invaluable resource for nursing degree students and allied health students taking courses in dentistry, physiotherapy and pharmacy. In addition, the book is ideal for US and international medical students preparing for the USMLE Step 1 examination.

The Fusarium Laboratory Manual

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Author : John F. Leslie
language : en
Publisher: John Wiley & Sons
Release Date : 2008-02-28

The Fusarium Laboratory Manual written by John F. Leslie 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 2008-02-28 with Science categories.

For the first time in over 20 years, a comprehensive collection of photographs and descriptions of species in the fungal genus Fusarium is available. This laboratory manual provides an overview of the biology of Fusarium and the techniques involved in the isolation, identification and characterization of individual species and the populations in which they occur. It is the first time that genetic, morphological and molecular approaches have been incorporated into a volume devoted to Fusarium identification. The authors include descriptions of species, both new and old, and provide protocols for genetic, morphological and molecular identification techniques. The Fusarium Laboratory Manual also includes some of the evolutionary biology and population genetics thinking that has begun to inform the understanding of agriculturally important fungal pathogens. In addition to practical “how-to” protocols it also provides guidance in formulating questions and obtaining answers about this very important group of fungi. The need for as many different techniques as possible to be used in the identification and characterization process has never been greater. These approaches have applications to fungi other than those in the genus Fusarium. This volume presents an introduction to the genus Fusarium, the toxins these fungi produce and the diseases they can cause. "The Fusarium Laboratory Manual is a milestone in the study of the genus Fusarium and will help bridge the gap between morphological and phylogenetic taxonomy. It will be used by everybody dealing with Fusarium in the Third Millenium." --W.F.O. Marasas, Medical Research Council, South Africa

Behavioural Phenotypes

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Author : Gregory O'Brien
language : en
Publisher: Cambridge University Press
Release Date : 1995

Behavioural Phenotypes written by Gregory O'Brien and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Medical categories.

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.

Cassidy And Allanson S Management Of Genetic Syndromes

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