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Titlebook: Genetic Counseling for Adult Neurogenetic Disease; A Casebook for Clini Jill S. Goldman Book 2015 Springer Science+Business Media New York

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发表于 2025-3-21 16:13:44 | 显示全部楼层 |阅读模式
书目名称Genetic Counseling for Adult Neurogenetic Disease
副标题A Casebook for Clini
编辑Jill S. Goldman
视频video
概述Provides an overview of symptoms, management, and special genetic counseling issues for most adult neurogenetic diseases.Includes case histories for a case-based approach to understanding genetic coun
图书封面Titlebook: Genetic Counseling for Adult Neurogenetic Disease; A Casebook for Clini Jill S. Goldman Book 2015 Springer Science+Business Media New York
描述.The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging..A rare hands-on guide to the subject, .Genetic Counseling for Adult Neurogenetic Disease. deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying .videos depict representative issues and challenges in genetic counseling for spe
出版日期Book 2015
关键词Creutzfeld-Jacob disease; adult neurogenetic disease; family genetic counseling; genetic counseling for
版次1
doihttps://doi.org/10.1007/978-1-4899-7482-2
isbn_softcover978-1-4899-7837-0
isbn_ebook978-1-4899-7482-2
copyrightSpringer Science+Business Media New York 2015
The information of publication is updating

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发表于 2025-3-21 20:42:32 | 显示全部楼层
DFT - Diskrete Fourier-Transformationatomy, pathology, etiology, and genetics, none of which are perfect. Classification by genetic etiology is complicated by heterogeneity, in which many genes cause the same phenotype, as well as pleiotropy, in which mutations in a single gene can result in different phenotypes. Genetic counseling for
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The Loss of the Sleipner Condeep Platformor inherited. Classifications are made by age of onset, affected body part, whether it is primary, secondary or heredodegenerative, and by the presence or absence of other movement disorders. Numerous genes can cause dystonia, complicating testing and diagnosis. Inheritance patterns can be autosomal
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System of Organizing and Building DIISria, and, often, abnormal oculomotor control. Age of onset of these disorders ranges from infancy to late life, and may include many additional clinical features such as neuropathy, cognitive dysfunction, and parkinsonism. Genetic counseling is frequently complicated by the overlap in phenotypes, an
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Substanzmissbrauch und Substanzabhängigkeitmon causes of dementia is Alzheimer’s disease. Dementia may have associated motor symptoms that can develop before or after the cognitive dysfunction. This section reviews many of the genetic counseling issues, including complexity of family history with both sporadic and inherited forms of dementia
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Jürgen Margraf,Silvia Schneider, and .. Susceptibility genes such as APOE contribute to risk in a far larger number of cases. Predictive testing is available for the autosomal dominant genes, but is not recommended for risk genes as they are neither necessary nor sufficient to cause AD. Genetic testing is complicated by capacity
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https://doi.org/10.1007/978-3-642-84501-7a (FFI). Ten to fifteen percent of prion disease has a genetic etiology. Inherited forms of all 3 diseases are due to mutations in the . gene. The phenotype conferred by a specific mutation can be further modified by a polymorphism at codon 29. Additionally age of onset and symptom presentation cann
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