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Titlebook: Genetics of Endocrine Diseases and Syndromes; Peter Igaz,Attila Patócs Book 2019 Springer Nature Switzerland AG 2019 endocrinology.genetic

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书目名称Genetics of Endocrine Diseases and Syndromes
编辑Peter Igaz,Attila Patócs
视频video
概述Enhances our understanding of the genetic basis of endocrine diseases.Covers both the molecular and clinical consequences of genetic alterations.Highlights the most common human endocrine diseases and
丛书名称Experientia Supplementum
图书封面Titlebook: Genetics of Endocrine Diseases and Syndromes;  Peter Igaz,Attila Patócs Book 2019 Springer Nature Switzerland AG 2019 endocrinology.genetic
描述.This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. .Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases..A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field..
出版日期Book 2019
关键词endocrinology; genetics; epigenetics; monogenic diseases; genotype-phenotype interactions
版次1
doihttps://doi.org/10.1007/978-3-030-25905-1
isbn_softcover978-3-030-25907-5
isbn_ebook978-3-030-25905-1Series ISSN 1664-431X Series E-ISSN 2504-3692
issn_series 1664-431X
copyrightSpringer Nature Switzerland AG 2019
The information of publication is updating

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Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generatiotic diagnosis of a particular monogenic disease. In these situations the tests itself were used for identification of one particular genetic alteration (e.g., point mutation or deletion) of the gene of interest. Later, parallel with the development of the technology, the focus has shifted by allowin
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Syndromes of Resistance to Thyroid Hormone Actionroid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 with measurable serum TSH concentrations, as a consequence of mutations of thyroid hormone recep
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Genetics of Pituitary Tumourscant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop secondary to germline mutations as part of a complex syndrome or as familial isolated pituitary adenomas. Tumours occurring in a familial setting may present at a younger age and can behave more aggressively w
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Congenital Adrenal Hyperplasia hormone synthesis. Patients present with various symptoms depending on the nature and severity of the enzymatic block. More than 95% of all CAH patients suffer from 21-hydroxylase deficiency. The genetic background is well characterized for all CAH subtypes. Characterization of their genetic backgr
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Pituitary Transcription Factor Mutations Leading to Hypopituitarismefects ranging from holoprosencephaly through septo-optic dysplasia to combined and isolated pituitary hormone deficiency. The first genes discovered in the human disease were based on mouse models of dwarfism due to mutations in transcription factor genes. High-throughput DNA sequencing technologie
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