-PDF Download- Genetics In Endocrinology EBOOK

Genetic Diagnosis of Endocrine Disorders

Author: Roy E. Weiss

Publisher: Academic Press

Published: 2015-10-09

Total Pages: 472

ISBN-13: 0128011343

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 in Endocrinology

Author: John D. Baxter

Publisher: Lippincott Raven

Published: 2002

Total Pages: 792

ISBN-13:

DOWNLOAD EBOOK →

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.

Genetics for Endocrinologists

Author: Benjamin Glaser

Publisher: Remedica Books

Published: 2003

Total Pages: 436

ISBN-13:

DOWNLOAD EBOOK →

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 of Endocrine Diseases and Syndromes

Author: Peter Igaz

Publisher: Springer Nature

Published: 2019-10-06

Total Pages: 476

ISBN-13: 3030259056

DOWNLOAD EBOOK →

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.

Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book

Author: Constantine A. Stratakis

Publisher: Elsevier Health Sciences

Published: 2017-05-11

Total Pages:

ISBN-13: 0323530060

DOWNLOAD EBOOK →

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.

Endocrine Tumor Syndromes and Their Genetics

Author: C.A. Stratakis

Publisher: Karger Medical and Scientific Publishers

Published: 2013-03-20

Total Pages: 202

ISBN-13: 3318023310

DOWNLOAD EBOOK →

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.

Molecular Endocrinology

Author: Gill Rumsby

Publisher: Garland Science

Published: 2020-07-26

Total Pages: 319

ISBN-13: 1000144690

DOWNLOAD EBOOK →

This volume in the Human Molecular Genetics series is an invaluable text for endocrinologists wishing to update their knowledge. It also provides an excellent grounding in the basic genetics of molecular endocrinology and relevant analytical techniques.

The Genetics of Endocrine Disorders

Author: Maria I New, M.D.

Publisher:

Published: 2000-10-01

Total Pages: 400

ISBN-13: 9780896037861

DOWNLOAD EBOOK →

Hormone Resistance and Hypersensitivity

Author: M. Maghnie

Publisher: Karger Medical and Scientific Publishers

Published: 2013-02-04

Total Pages: 170

ISBN-13: 3318022683

DOWNLOAD EBOOK →

Over recent years, impressive advances in genetic/epigenetic technology have greatly improved the understanding of the pathogenesis of pediatric endocrine diseases due to hormone resistance and hypersensitivity.This book presents reviews of thyroid hormone and thyroid hormone receptor resistance, and genetics and epigenetics of parathyroid hormone resistance. Abnormalities of the pituitary-gonadal axis affecting puberty as well as androgen receptor are covered. Novel insights into the diseases affecting ACTH, glucocorticoid and aldosterone receptors are discussed. Further chapters address new aspects of the physiology of the GH and IGF-1 axis as well as the diseases related to GH-IGF-1 receptor and post-receptor signaling defects. A key chapter on metabolic insights into insulin resistance is also included. Covering clinical and genetic aspects of hormone resistance and hypersensitivity, this book will be a useful tool in the hands of scientists, physicians and other healthcare professionals who wish to be up to date with novel research findings in this area.

Endocrine Genes

Author: Yun-Fai Lau

Publisher: Oxford University Press, USA

Published: 1988

Total Pages: 248

ISBN-13:

DOWNLOAD EBOOK →

The application of recombinant DNA techniques to endocrinology is an exciting area of biomedical research. These and other new methods have made it possible to clone many endocrine genes--such as those for insulin and growth hormone--to determine their nucleatide sequences, and to study their expression both in vitro and in vivo. Derived from a series of molecular endocrinology research seminars, this book covers the basics of gene cloning, structural analysis and the regulation of gene expression in selected endocrine systems. The first part focuses on analytical methods and experimental approaches, including DNA-mediated gene transfer, identification of tissue-specific transcription factors and regulatory sequences, in situ hybridization of mRNA, and gene mapping on human chromosomes. The second part presents molecular studies of various endocrine systems, each combining different approaches.