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Management of Genetic Syndromes. 3 ed. 2010, Cassidy

Management of Genetic Syndromes. 3 ed. 2010

Автор: Cassidy
Название:  Management of Genetic Syndromes. 3 ed. 2010
Издательство: Wiley
Классификация:
Медицинская генетика
Наследственные болезни

ISBN: 0470191414
ISBN-13(EAN): 9780470191415
ISBN: 0-470-19141-4
ISBN-13(EAN): 978-0-470-19141-5
Обложка/Формат: Hardback
Страницы: 962
Вес: 2.27 кг.
Дата издания: 2010 May
Язык: ENG
Издание: 3 rev ed
Иллюстрации: Illustrations
Размер: 27.94 x 21.84 x 4.83 cm
Читательская аудитория: Professional & vocational
Ссылка на Издательство: Link
Рейтинг:
Поставляется из: Англии
Описание: 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 colle
Описание: It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic counseling, and management of individuals of all ages affected by relatively common genetic syndromes.
Дополнительное описание: Foreword to the Third Edition. Foreword to the Second Edition. Foreword to the First Edition. Preface. Contributors. 1 Introduction ( Suzanne B. Cassidy and Judith E. Allanson ). 2 Aarskog Syndrome ( Roger E. Stevenson ). 3 Achrondroplasia ( Richard M. Pa


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Syndromes

Автор: Bissonetti
Название: Syndromes
ISBN: 0071354557 ISBN-13(EAN): 9780071354554
Издательство: McGraw-Hill
Цена: 8447 р.
Наличие на складе: Есть (1 шт.)
Описание: A resource for various major genetic syndromes and important anesthetic, diagnostic, and pharmacological considerations. It provides convenient A-Z coverage of more than 2,000 genetic, metabolic, and dysmorphic conditions. Its cross-referencing of synonyms, variations, and international names leads to over 4,500 entries in all.
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Handbook of Chromosomal Syndromes

Автор: G. Shashidhar Pai
Название: Handbook of Chromosomal Syndromes
ISBN: 047137217X ISBN-13(EAN): 9780471372172
Издательство: Wiley
Цена: 13728 р.
Наличие на складе: Есть (1 шт.)
Описание: Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook Chromosomal Syndromes is the up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. For each syndrome, easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: A section devoted to the nomenclature of chromosome abnormalities Pictorial material suitable to be shown to patient populations Descriptions of the phenotype in tabular and text form for quick and easy reference Ideograms for each entry A list of key references
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Neuroacanthocytosis Syndromes

Автор: Danek
Название: Neuroacanthocytosis Syndromes
ISBN: 1402028970 ISBN-13(EAN): 9781402028977
Издательство: Springer
Цена: 8466 р.
Наличие на складе: Есть у поставщика.Поставка под заказ.
Описание: Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
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Hereditary Cancer Syndromes, An Issue of Surgical Clinics,88-4

Автор: Ismail Jatoi
Название: Hereditary Cancer Syndromes, An Issue of Surgical Clinics,88-4
ISBN: 1416063560 ISBN-13(EAN): 9781416063568
Издательство: Elsevier Science
Цена: 4850 р.
Наличие на складе: Поставка под заказ.
Описание: This issue of the "Surgical Clinics on Familial Cancer Syndromes" will cover the following topics: cancer genetics; genetic testing for cancer susceptibility; genetic testing and privacy, employment, and insurance coverage; hereditary diffuse gastric cancer, hamartomatous polyposis syndromes, hereditary non-polyposis coli and familial adenomatous polyposis coli syndromes; management of hereditary breast cancer; multiple endocrine neoplasias; familial melanoma; and the emerging role of prophylactic surgery in cancer prevention.
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J Wave Syndromes

Автор: Antzelevitch
Название: J Wave Syndromes
ISBN: 3319315765 ISBN-13(EAN): 9783319315768
Издательство: Springer
Цена: 12088 р.
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Описание: This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics.J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes.There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.
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Gorlin`s Syndromes of the Head and Neck

Автор: Hennekam, Raoul; Allanson, Judith; Krantz, Ian
Название: Gorlin`s Syndromes of the Head and Neck
ISBN: 0195307909 ISBN-13(EAN): 9780195307900
Издательство: Oxford Academ
Цена: 14243 р.
Наличие на складе: Поставка под заказ.
Описание: This classic text covers over 700 different genetic syndromes involving the head and neck, and has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.
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Neuroacanthocytosis Syndromes II

Автор: Walker
Название: Neuroacanthocytosis Syndromes II
ISBN: 3642090826 ISBN-13(EAN): 9783642090820
Издательство: Springer
Цена: 12319 р.
Наличие на складе: Есть у поставщика.Поставка под заказ.
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Inherited Cancer Syndromes

Автор: Ellis
Название: Inherited Cancer Syndromes
ISBN: 1441968202 ISBN-13(EAN): 9781441968203
Издательство: Springer
Цена: 10009 р.
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Описание: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.
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Congenital Diseases and Syndromes

Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser
Название: Congenital Diseases and Syndromes
ISBN: 3642001599 ISBN-13(EAN): 9783642001598
Издательство: Springer
Цена: 12319 р.
Наличие на складе: Есть у поставщика.Поставка под заказ.
Описание: This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. In this book, a final chapter is devoted to phacomatoses.

Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted.

This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes.

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Neuroacanthocytosis Syndromes II

Автор: Walker Ruth H., Saiki Shinji, Danek Adrian
Название: Neuroacanthocytosis Syndromes II
ISBN: 3540716920 ISBN-13(EAN): 9783540716921
Издательство: Springer
Цена: 12319 р.
Наличие на складе: Есть у поставщика.Поставка под заказ.
Описание: This book contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype-genotype correlations. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which greatly facilitate understanding the significance of gene mutations in humans, and provide the foundation for possible therapeutic interventions.
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Lessons Learned / Risk Management Issues in Genetic Counseling

Автор: Schmerler Susan
Название: Lessons Learned / Risk Management Issues in Genetic Counseling
ISBN: 0387721746 ISBN-13(EAN): 9780387721743
Издательство: Springer
Цена: 3846 р.
Наличие на складе: Есть у поставщика.Поставка под заказ.
Описание: No one wants to be sued. A lawsuit is an assault on one’s self-image, reputation, and livelihood. It is physically, mentally, and financially draining. Professionals get sued because an individual believes she has been harmed or thinks there is enough evidence to convince a jury that she has been harmed. An accusation of harm can be expressed in different legal terms, such as breach of contract or negligence. The profession of genetic counseling has developed within the field of medicine, so that a medical model usually applies. Therefore, a formal complaint by a patient about a genetic counselor would come under the laws that apply to medicine as opposed to business. Most commonly, these complaints take the form of a malpractice lawsuit that claims malpractice or negligence.The purpose of this book is (1) to provide genetic counselors with varying levels of experience and expertise with heightened awareness of the sources and processes of the law as it can affect their practice; (2) to offer them strategies for minimizing the potential for their being named in a lawsuit; and (3) to provide guidance for the management of current and emerging situations. The book discusses the day-to-day practices of genetic counselors and identifies areas in which possible causes of liability can be found. It looks closely at a negligence lawsuit as it would concern a genetic counselor, so that readers may learn where the potholes lurk and how to avoid them.
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