Genetic Diagnosis of Endocrine Disorders

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

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  • Author : Roy E. Weiss
  • Publisher : Academic Press
  • Pages : 472 pages
  • ISBN : 0128011343
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKGenetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders
  • Author : Roy E. Weiss,Samuel Refetoff
  • Publisher : Academic Press
  • Release : 09 October 2015
GET THIS BOOKGenetic Diagnosis of Endocrine Disorders

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

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes
  • Author : Peter Igaz,Attila Patócs
  • Publisher : Springer Nature
  • Release : 06 October 2019
GET THIS BOOKGenetics of Endocrine Diseases and Syndromes

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.

Diagnostics of Endocrine Function in Children and Adolescents

Diagnostics of Endocrine Function in Children and Adolescents
  • Author : Michael B. Ranke,P.-E. Mullis
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 17 October 2021
GET THIS BOOKDiagnostics of Endocrine Function in Children and Adolescents

A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have

Handbook of Diagnostic Endocrinology

Handbook of Diagnostic Endocrinology
  • Author : William E. Winter,Lori J. Sokoll,Brett Holmquist,Roger L. Bertholf
  • Publisher : Academic Press
  • Release : 06 October 2020
GET THIS BOOKHandbook of Diagnostic Endocrinology

The clinical laboratory plays a critical role in the diagnosis and management of endocrine and related metabolic disorders, which are leading causes of morbidity and mortality in children and adults. The Handbook of Diagnostic Endocrinology, Third Edition, provides a ready reference for the evaluation, diagnosis, and monitoring of such disorders. This revision incorporates translational medicine, connecting what clinicians need to know with those in research providing a clinical context to which they can relate their molecular findings. This book solves

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
  • Author : Constantine A. Stratakis
  • Publisher : Elsevier Health Sciences
  • Release : 11 May 2017
GET THIS BOOKGenetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book

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

Endocrine Hypertension

Endocrine Hypertension
  • Author : Christian A Koch,George P Chrousos
  • Publisher : Springer Science & Business Media
  • Release : 30 August 2012
GET THIS BOOKEndocrine Hypertension

The prevalence of hypertension is almost three times as high as that of diabetes mellitus type 2, with both conditions being major risk factors for stroke, ischemic heart disease, cardiac arrhythmias, and heart failure. The exact prevalence of hypertension related to hormonal derangements (endocrine hypertension) is not known but estimated to affect less than 15% of hypertensive patients. Recent scientific discoveries have increased the understanding of the pathophysiologic mechanisms of hypertension. In Endocrine Hypertension, a renowned panel of experts provides a comprehensive,

Congenital Endocrinopathies

Congenital Endocrinopathies
  • Author : Renata Lorini
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 17 October 2021
GET THIS BOOKCongenital Endocrinopathies

In recent years, substantial progress in gene technology has greatly improved the understanding of the pathogenesis of paediatric endocrine diseases as well as opened new diagnostic and therapeutic possibilities. This volume, based on a symposium held in Genoa in January 2007, reviews normal and abnormal hypothalamic-pituitary development affecting growth hormone (GH) secretion and defects of the GH-IGF-I axis influencing GH and IGF-I action. Abnormalities of the pituitary-gonadal axis affecting normal puberty are discussed together with defects of steroidogenesis involving both adrenal

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
  • Author : Flora Tassone,Elizabeth M. Berry-Kravis
  • Publisher : Springer Science & Business Media
  • Release : 02 June 2010
GET THIS BOOKThe Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the

Endocrine Pathology

Endocrine Pathology
  • Author : Ricardo V. Lloyd
  • Publisher : Springer Science & Business Media
  • Release : 06 December 2012
GET THIS BOOKEndocrine Pathology

Endocrine Pathology integrates classical diagnostic anatomic pathology with recent developments in immunochemistry and molecular biology in its approach to endocrine disorders. The book discusses not only a wide range of diseases commonly encountered in everyday clinical practice but also those uncommon conditions elucidated by such innovative techniques as ultrastructural immunochemistry and in situ hybridization.

Noonan Syndrome and Related Disorders

Noonan Syndrome and Related Disorders
  • Author : Martin Zenker
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 17 October 2021
GET THIS BOOKNoonan Syndrome and Related Disorders

In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these

Endocrinology

Endocrinology
  • Author : S.S. Nussey,S.A. Whitehead
  • Publisher : CRC Press
  • Release : 15 June 2001
GET THIS BOOKEndocrinology

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

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
  • Publisher : Academic Press
  • Release : 22 August 2013
GET THIS BOOKGenetic Steroid Disorders

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to

Genetics in Endocrinology

Genetics in Endocrinology
  • Author : John D. Baxter,Shlomo Melmed,Maria I. New
  • Publisher : Lippincott Raven
  • Release : 17 October 2021
GET THIS BOOKGenetics in Endocrinology

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.