Genetics Of Endocrine Diseases And Syndromes

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Genetics Of Endocrine Diseases And Syndromes


Genetics Of Endocrine Diseases And Syndromes
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Genetics Of Endocrine Diseases And Syndromes


Genetics Of Endocrine Diseases And Syndromes
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Author : Peter Igaz
language : en
Publisher: Springer Nature
Release Date : 2019-10-06

Genetics Of Endocrine Diseases And Syndromes written by Peter Igaz and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-06 with Science categories.


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.

Genetic Diagnosis Of Endocrine Disorders


Genetic Diagnosis Of Endocrine Disorders
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Author : Roy E. Weiss
language : en
Publisher: Academic Press
Release Date : 2015-10-09

Genetic Diagnosis Of Endocrine Disorders written by Roy E. Weiss and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-09 with Medical categories.


Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book


Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book
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Author : Constantine A. Stratakis
language : en
Publisher: Elsevier Health Sciences
Release Date : 2017-05-11

Genetics Of Endocrine Disorders An Issue Of Endocrinology And Metabolism Clinics Of North America E Book written by Constantine A. Stratakis and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-11 with Medical categories.


This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Polyendocrine Disorders And Endocrine Neoplastic Syndromes


Polyendocrine Disorders And Endocrine Neoplastic Syndromes
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Author : Annamaria Colao
language : en
Publisher: Springer
Release Date : 2021-08-11

Polyendocrine Disorders And Endocrine Neoplastic Syndromes written by Annamaria Colao and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-08-11 with Medical categories.


This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.

Genetics In Endocrinology


Genetics In Endocrinology
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Author : John D. Baxter
language : en
Publisher: Lippincott Raven
Release Date : 2002

Genetics In Endocrinology written by John D. Baxter and has been published by Lippincott Raven this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with Science categories.


An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.

Practical Clinical Endocrinology


Practical Clinical Endocrinology
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Author : Peter Igaz
language : en
Publisher: Springer Nature
Release Date : 2021-02-24

Practical Clinical Endocrinology written by Peter Igaz and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-02-24 with Medical categories.


This practical book aims to cover the whole scope of clinical endocrinology, including both common and selected rare but important diseases, with an emphasis on practical clinical management. A number of different questions and problems in clinical routine are discussed in this book in an unconventional format. Each topic begins with the presentation of a typical clinical case, and then the topic is approached in a question and answer format linked to the clinical case presented, highlighting the most important questions in diagnosis, differential diagnosis and therapy. Numerous figures and tables are included to help understanding. The book is chiefly intended for doctors in training (preparing for boarding exam in endocrinology or internal medicine), but also for established clinicians who want to broaden or refresh their skills. University students of medicine can also find this book interesting.

Genetics For Endocrinologists


Genetics For Endocrinologists
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Author : Benjamin Glaser
language : en
Publisher: Remedica Pub Limited
Release Date : 2003

Genetics For Endocrinologists written by Benjamin Glaser and has been published by Remedica Pub Limited this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Science categories.


This text was conceived as a tool to address the problems encountered by an endocrinologist when sureveying the wealth of information available from the past two decades of genetic research. The ability to pinpoint genetic defects responsible for a specific endocrine disorder opens the possibility of faster and simpler diagnosis, improved understanding of disease mechanisms, and development of new treatment modalities. However, the abundance of information attained may be so overwhelming that the practicing physician may be unable to apply this knowledge to the daily routine of clinical practice.