Genetics of Endocrine Diseases and Syndromes
Genetics of Endocrine Diseases and Syndromes

Author: Peter Igaz

Publisher: Springer Nature

Published: 2019-10-06

Total Pages: 476

ISBN-13: 3030259056

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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

Author: Roy E. Weiss

Publisher: Academic Press

Published: 2015-10-09

Total Pages: 462

ISBN-13: 0128011343

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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
Genetics in Endocrinology

Author: John D. Baxter

Publisher: Lippincott Raven

Published: 2002

Total Pages: 792

ISBN-13:

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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.

Endocrinology
Endocrinology

Author: S.S. Nussey

Publisher: CRC Press

Published: 2001-06-15

Total Pages: 382

ISBN-13: 9780203450437

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Traditionally, endocrinology textbooks have been either short notes or multi-author, multi-volume monster, all of which present clinical material last and often only briefly. Endocrinology is different and used real cases to lead readers into the text and then describes the biochemistry, physiology, and anatomy they need to understand the case. The

Medical Genetics
Medical Genetics

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 385

ISBN-13: 0071819282

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Hormone Resistance and Hypersensitivity
Hormone Resistance and Hypersensitivity

Author: M. Maghnie

Publisher: Karger Medical and Scientific Publishers

Published: 2013-02-04

Total Pages: 170

ISBN-13: 3318022683

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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.

Principles and Practice of Endocrinology and Metabolism
Principles and Practice of Endocrinology and Metabolism

Author: Kenneth L. Becker

Publisher: Lippincott Williams & Wilkins

Published: 2001

Total Pages: 2500

ISBN-13: 9780781717502

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Established as the foremost text in the field, Principles and Practice of Endocrinology and Metabolism is now in its thoroughly revised, updated Third Edition. This practical, clinically relevant, and comprehensive text covers the entire field of endocrinology and metabolism, including the diffuse endocrine system; morphology and physiology; diagnosis and treatment of endocrine diseases; endocrinology of the female; hormones and cancer; and much more. The Third Edition contains new chapters reflecting the latest advances and features expanded coverage of genetics and the endocrinology of sepsis. More than 1,400 illustrations complement the text. A drug formulary appears at the back of the book.

Practical Endocrinology and Diabetes in Children
Practical Endocrinology and Diabetes in Children

Author: Malcolm D. C. Donaldson

Publisher: John Wiley & Sons

Published: 2019-02-07

Total Pages: 331

ISBN-13: 1119386195

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The revised and updated fourth edition of Practical Endocrinology and Diabetes in Children offers a practical, highly clinical and up-to-date handbook of paediatric endocrinology and diabetes. The book is written in clear terms and offers a user-friendly format that is designed to be concise, yet comprehensive.. The international panel of expert contributors explore the range of endocrine disorders in children including growth, thyroid, adrenal and problems related to puberty.

Greenspan's Basic and Clinical Endocrinology, Tenth Edition
Greenspan's Basic and Clinical Endocrinology, Tenth Edition

Author: David G. Gardner

Publisher: McGraw Hill Professional

Published: 2017-10-13

Total Pages: 941

ISBN-13: 1259589293

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A full-color guide to the entire field of clinical endocrinology and its scientific underpinnings – updated with the latest breakthroughs and developments A Doody’s Core Title for 2021! Greenspan’s Basic & Clinical Endocrinology delivers a succinct, leading-edge overview of the underlying molecular biology of the endocrine system and the latest perspectives on the diagnosis and treatment of specific diseases and disorders. Featuring an enhanced design that includes hundreds of full-color illustrations and clinical photographs, Greenspan’s is a true must-have during traditional or integrated courses in endocrinology, endocrinology rotation, or exam prep in internal medicine and endocrinology and as reference for disease management. Greenspan’s provides clinically relevant coverage of metabolic bone disease, pancreatic hormones and diabetes mellitus, hypoglycemia, obesity, geriatric endocrinology, and many other diseases and disorders. Supporting this essential material is a handy appendix of normal hormone reference ranges across the lifespan. Here’s why Greenspan’s is an essential tool for learning how to manage endocrine patients: • The Tenth Edition is enhanced by updated content throughout each chapter • NEW CHAPTERS on Transgender Endocrinology and Disorders of Sexual Determination and Differentiation • Important chapter on Evidence-Based Endocrinology and Clinical Epidemiology • Concise, balanced coverage of both scientific and clinical principles that guide patient management • The best source for current concepts in endocrine pathophysiology to aid clinical decision making • The most practical, current insights into diagnostic testing • More than 270 full-color illustrations and clinical photographs If you are in need of a well-illustrated, completely up-to-date guide to the entire field of clinical endocrinology, this trusted classic belongs on your desk or computer.