Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders PDF Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0128011343
Category : Medical
Languages : en
Pages : 472

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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

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders PDF Author: Roy E. Weiss
Publisher: Academic Press
ISBN: 0128011343
Category : Medical
Languages : en
Pages : 472

Get Book

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

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes PDF Author: Peter Igaz
Publisher: Springer Nature
ISBN: 3030259056
Category : Science
Languages : en
Pages : 476

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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.

Genetics for Endocrinologists

Genetics for Endocrinologists PDF Author: Benjamin Glaser
Publisher: Remedica Books
ISBN:
Category : Endocrine genetics
Languages : en
Pages : 436

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Book Description
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.

The Genetics of Endocrine Disorders

The Genetics of Endocrine Disorders PDF Author: Maria I New, M.D.
Publisher:
ISBN: 9780896037861
Category : Medical
Languages : en
Pages : 400

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Book Description


Genetics in Endocrinology

Genetics in Endocrinology PDF Author: John D. Baxter
Publisher: Lippincott Raven
ISBN:
Category : Medical
Languages : en
Pages : 792

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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.

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 PDF Author: Constantine A. Stratakis
Publisher: Elsevier Health Sciences
ISBN: 0323530060
Category : Medical
Languages : en
Pages :

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Book Description
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.

Hormone Resistance and Hypersensitivity

Hormone Resistance and Hypersensitivity PDF Author: M. Maghnie
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318022683
Category : Medical
Languages : en
Pages : 170

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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.

Genetic Disorders of Endocrine Neoplasia

Genetic Disorders of Endocrine Neoplasia PDF Author: Patricia L. M. Dahia
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805572034
Category : Medical
Languages : en
Pages : 226

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Book Description
The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN 1 and MEN 2 and Von Hippel-Lindau Disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted, are discussed in detail. Also included is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA. The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.

Genetic Disorders of the Endocrine Glands

Genetic Disorders of the Endocrine Glands PDF Author: David L. Rimoin
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 452

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Book Description


Oxford Desk Reference: Endocrinology

Oxford Desk Reference: Endocrinology PDF Author: Helen E. Turner
Publisher: Oxford University Press
ISBN: 019251265X
Category : Medical
Languages : en
Pages : 544

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Book Description
Oxford Desk Reference: Endocrinology provides easy access to evidence-based materials for quick consultation but also provides an in-depth expert reference for clinical practice. It covers the process of diagnosis, investigation, and management, as well as information for patients. Internationally-renowned experts have brought together evidence, guidelines and their clinical expertise to put trustworthy support at your fingertips. The vast spectrum of endocrine disorders are clearly laid out in self-contained topics for easy reference. Chapters build bridges between pathogenesis, clinical presentation, differential diagnosis and investigation to aid understanding. Careful consideration is given to establishing a diagnosis including the recognition, investigation and management of the rarer diagnoses. The practical treatment of everyday endocrine disorders and the management of life-long conditions are outlined in clear protocols. Chapters are organised by endocrine glands, disorders and syndromes and there are sections on the involvement of hormones in other specialities including endocrine oncology. The continuity from childhood to adolescent and adult endocrinology as well as the needs of older patients is explored in specific sections. Dedicated chapters cover the important roles endocrine specialist nurses play in patient management, and dietetic advice. The editors have included a wealth of practical resources including: · A speedy reference section, which provides summaries and quick direction · A patient advice and reference section, which supports face-to-face discussion with patients · A medicolegal chapter, which outlines risk and DVLA regulations Oxford Desk Reference: Endocrinology is the ideal companion for consultants, registrars associate specialists and clinical assistants as well as those from other disciplines who share endocrine clinics including endocrine surgeons, oncologists, gynaecologists and paediatricians.