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

Produk Detail:

  • 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 : 01 March 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

Hormone Resistance and Hypersensitivity

Hormone Resistance and Hypersensitivity
  • Author : M. Maghnie,S. Loche,M. Cappa,L. Ghizzoni,R. Lorini
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 04 February 2013
GET THIS BOOKHormone Resistance and Hypersensitivity

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

Encyclopedia of Endocrine Diseases, Four-Volume Set

Encyclopedia of Endocrine Diseases, Four-Volume Set
  • Author : Luciano Martini
  • Publisher : Academic Press
  • Release : 09 April 2004
GET THIS BOOKEncyclopedia of Endocrine Diseases, Four-Volume Set

The Encyclopedia of Endocrine Diseases is an authoritative reference developed by 16 international experts who recruited the world's top scientists for contributions. This stellar reference work focuses on nearly 500 endocrine diseases addressing everything from acromeglay, diabetes, hypertension, osteoporosis, thyroid disease, Von Hippel-Lindau Disease, unexplained weight loss, to androgen related disorders. This encyclopedia is an essential addition to any library collection written to be accessible for both the clinical and non-clinical reader. Associate Editors include: Eli Y. Adashi, John P. Bilezikian, George

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders
  • Author : Roy E. Weiss,Samuel Refetoff
  • Publisher : Academic Press
  • Release : 03 June 2010
GET THIS BOOKGenetic Diagnosis of Endocrine Disorders

Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid,

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 Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
  • Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
  • Publisher : Academic Press
  • Release : 31 October 2017
GET THIS BOOKGenetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint,

Imaging in Endocrine Disorders

Imaging in Endocrine Disorders
  • Author : M. Buchfelder,F. Guaraldi
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 21 March 2016
GET THIS BOOKImaging in Endocrine Disorders

Revolutionary changes in medical imaging have enormously improved the ability to detect structural and functional organ alterations early. Imaging is becoming an essential tool - in association with hormonal assays - for the diagnosis and management of endocrine disorders. New contrast media and their application to ultrasounds, as well as the opportunity to merge images acquired by functional/metabolic and traditional techniques, allow characterization of key features of identified lesions. Some radiological techniques such as ultrasonography, CT, and MRI are

Congenital Endocrinopathies

Congenital Endocrinopathies
  • Author : Renata Lorini
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 01 March 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

Genetics in Endocrinology

Genetics in Endocrinology
  • Author : John D. Baxter,Shlomo Melmed,Maria I. New
  • Publisher : Lippincott Raven
  • Release : 01 March 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.

Calcium and Bone Disorders in Children and Adolescents

Calcium and Bone Disorders in Children and Adolescents
  • Author : J. Allgrove,N.J. Shaw
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 11 June 2015
GET THIS BOOKCalcium and Bone Disorders in Children and Adolescents

There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology,

Hot Topics in Endocrine and Endocrine-Related Diseases

Hot Topics in Endocrine and Endocrine-Related Diseases
  • Author : Monica Fedele
  • Publisher : BoD – Books on Demand
  • Release : 08 May 2013
GET THIS BOOKHot Topics in Endocrine and Endocrine-Related Diseases

This book covers a selected number of hot topics in endocrine and hormone-related pathologies, discussed by eminent scientists and clinicians coming from different countries of the world. It deals with advanced recent trends in the field, including neuroendocrine and pituitary tumors, thyroid dysfunctions, diabetes and a series of endocrine-related diseases, such as those related to the anabolic effects of testosterone, obesity, cancer, the liver complications of diabetes and the pediatric nonalcoholic fatty liver disease. The readers should be able to

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

Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases
  • Author : Rob Elles,Roger Mountford
  • Publisher : Springer Science & Business Media
  • Release : 01 March 2021
GET THIS BOOKMolecular Diagnosis of Genetic Diseases

This completely revised and updated second edition integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to