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.



Genetics For Endocrinologists


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

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



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 Medical 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.



Genetic Disorders Of Endocrine Neoplasia


Genetic Disorders Of Endocrine Neoplasia
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Author : Patricia L. M. Dahia
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2001-01-01

Genetic Disorders Of Endocrine Neoplasia written by Patricia L. M. Dahia and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-01-01 with Medical categories.


The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN 1 and MEN 2 and Von Hippel-Lindau Disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted, are discussed in detail. Also included is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA. The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.



Endocrine Tumor Syndromes And Their Genetics


Endocrine Tumor Syndromes And Their Genetics
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Author : C.A. Stratakis
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2013-03-20

Endocrine Tumor Syndromes And Their Genetics written by C.A. Stratakis and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-20 with Medical categories.


In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology.Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney-Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.



Genetic Disorders Of The Endocrine Glands


Genetic Disorders Of The Endocrine Glands
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Author : David L. Rimoin
language : en
Publisher:
Release Date : 1971

Genetic Disorders Of The Endocrine Glands written by David L. Rimoin and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1971 with Medical categories.




The Genetics Of Endocrine Disorders


The Genetics Of Endocrine Disorders
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Author : Maria I New, M.D.
language : en
Publisher:
Release Date : 2000-10-01

The Genetics Of Endocrine Disorders written by Maria I New, M.D. and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-10-01 with Medical categories.




Genetic Steroid Disorders


Genetic Steroid Disorders
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Author : Maria I. New
language : en
Publisher: Academic Press
Release Date : 2023-06-14

Genetic Steroid Disorders written by Maria I. New and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-14 with Science categories.


Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting