Genetics of Endocrine Diseases and Syndromes PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetics of Endocrine Diseases and Syndromes PDF full book. Access full book title Genetics of Endocrine Diseases and Syndromes by Peter Igaz. Download full books in PDF and EPUB format.
Author: Peter Igaz
Publisher: Springer Nature
ISBN: 3030259056
Category : Science
Languages : en
Pages : 476
Get Book Here
Book Description
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.
Author: Peter Igaz
Publisher: Springer Nature
ISBN: 3030259056
Category : Science
Languages : en
Pages : 476
Get Book Here
Book Description
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.
Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0128011343
Category : Science
Languages : en
Pages : 462
Get Book Here
Book Description
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
Author: John D. Baxter
Publisher: Lippincott Raven
ISBN:
Category : Medical
Languages : en
Pages : 792
Get Book Here
Book Description
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.
Author: Laura Dean
Publisher:
ISBN:
Category :
Languages : en
Pages :
Get Book Here
Book Description
Author: S.S. Nussey
Publisher: CRC Press
ISBN: 9780203450437
Category : Medical
Languages : en
Pages : 382
Get Book Here
Book Description
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
Author: M. Maghnie
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318022683
Category : Medical
Languages : en
Pages : 170
Get Book Here
Book Description
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.
Author: Kenneth L. Becker
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781717502
Category : Medical
Languages : en
Pages : 2500
Get Book Here
Book Description
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.
Author: Franklyn F. Bolander
Publisher: Academic Press
ISBN: 1483288218
Category : Medical
Languages : en
Pages : 614
Get Book Here
Book Description
Aimed at graduate level courses, this textbook provides students with a solid background in the basics of molecular endocrinology. Molecular Endocrinology, Second Edition, summarizes the area and provides an in-depth discussion of the molecular aspects of hormone action, including hormone-receptor interactions, second messenger generation, gene induction, and post-transcriptional control. Thoroughly revised and updated, the Second Edition includes new information on growth factors, hematopoietic-immune factors, nonclassical hormones, receptors, transduction, transcriptional regulation, as well as other relevant topics.Incorporating an abundance of new information, this text retains the self-contained, focused, and easily readable style of the First Edition. Professionals in related fields will also find this book to be a helpful summary and general reference source.
Author: G. Bradley Schaefer
Publisher: McGraw Hill Professional
ISBN: 0071819282
Category : Medical
Languages : en
Pages : 385
Get Book Here
Book Description
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.
Author: Ricardo V. Lloyd
Publisher: WHO Classification of Tumours
ISBN: 9789283244936
Category : Medical
Languages : en
Pages : 0
Get Book Here
Book Description
The WHO Classification of Tumours of Endocrine Organs is the 10th volume in the 4th Edition of the WHO series on histological and genetic typing of human tumours. This authoritative, concise reference provides an international standard for oncologists and pathologists and will serve as an indispensable guide for use in the design of studies evaluating response to therapy and clinical outcome. Diagnostic criteria, pathological features, and associated genetic alterations are described in a disease-oriented manner. Sections on all recognized neoplasms and their variants include new ICD-O codes, epidemiology, clinical features, pathology, genetics, prognosis, and predictive factors. The book, prepared by 166 authors from 25 countries, contains more than 700 color images and tables and more than 3100 references.
