Genetics Of Endocrine Diseases And Syndromes

Author : Peter Igaz,Attila Patócs
Publisher : Springer Nature
Page : 476 pages
File Size : 49,5 Mb
Release : 2019-10-06
Category : Science
ISBN : 9783030259051

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Genetics of Endocrine Diseases and Syndromes by Peter Igaz,Attila Patócs Pdf

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,Samuel Refetoff
Publisher : Academic Press
Page : 472 pages
File Size : 54,5 Mb
Release : 2015-10-09
Category : Medical
ISBN : 9780128011348

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Genetic Diagnosis of Endocrine Disorders by Roy E. Weiss,Samuel Refetoff Pdf

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 : Constantine A. Stratakis
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 43,6 Mb
Release : 2017-05-11
Category : Medical
ISBN : 9780323530064

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Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book by Constantine A. Stratakis Pdf

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.

Author : Benjamin Glaser,Harry J. Hirsch
Publisher : Remedica Books
Page : 436 pages
File Size : 51,6 Mb
Release : 2003
Category : Endocrine genetics
ISBN : UCLA:L0091077206

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Genetics for Endocrinologists by Benjamin Glaser,Harry J. Hirsch Pdf

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.

Author : John D. Baxter,Shlomo Melmed,Maria I. New
Publisher : Lippincott Raven
Page : 794 pages
File Size : 41,8 Mb
Release : 2002
Category : Medical
ISBN : UOM:39015054255024

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Genetics in Endocrinology by John D. Baxter,Shlomo Melmed,Maria I. New Pdf

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 : Annamaria Colao,Marie-Lise Jaffrain-Rea,Albert Beckers
Publisher : Springer
Page : 0 pages
File Size : 46,8 Mb
Release : 2021-08-11
Category : Medical
ISBN : 331989496X

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Polyendocrine Disorders and Endocrine Neoplastic Syndromes by Annamaria Colao,Marie-Lise Jaffrain-Rea,Albert Beckers Pdf

This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.

Author : M. Maghnie,S. Loche,M. Cappa,L. Ghizzoni,R. Lorini
Publisher : Karger Medical and Scientific Publishers
Page : 168 pages
File Size : 48,5 Mb
Release : 2013-02-04
Category : Medical
ISBN : 9783318022681

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Hormone Resistance and Hypersensitivity by M. Maghnie,S. Loche,M. Cappa,L. Ghizzoni,R. Lorini Pdf

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 : David L. Rimoin,R. Neil Schimke
Publisher : Unknown
Page : 452 pages
File Size : 40,9 Mb
Release : 1971
Category : Medical
ISBN : UOM:39015000868631

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Genetic Disorders of the Endocrine Glands by David L. Rimoin,R. Neil Schimke Pdf

Author : Patricia L. M. Dahia,Charis Eng
Publisher : Karger Medical and Scientific Publishers
Page : 226 pages
File Size : 52,5 Mb
Release : 2001-01-01
Category : Medical
ISBN : 9783805572033

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Genetic Disorders of Endocrine Neoplasia by Patricia L. M. Dahia,Charis Eng Pdf

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.

Author : Constantine A. Stratakis
Publisher : Karger Medical and Scientific Publishers
Page : 202 pages
File Size : 40,6 Mb
Release : 2013
Category : Medical
ISBN : 9783318023305

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Endocrine Tumor Syndromes and Their Genetics by Constantine A. Stratakis Pdf

From classic MEN syndromes to various germline and somatic mutations in sporadic tumors In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology. Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney- Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.

Author : Maria I New, M.D.
Publisher : Unknown
Page : 400 pages
File Size : 41,7 Mb
Release : 2000-10-01
Category : Medical
ISBN : 089603786X

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The Genetics of Endocrine Disorders by Maria I New, M.D. Pdf

Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Page : 878 pages
File Size : 52,9 Mb
Release : 2017-10-31
Category : Medical
ISBN : 9780128041987

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Genetics of Bone Biology and Skeletal Disease by Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi Pdf

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, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Author : Maria I. New,Joe Leigh Simpson
Publisher : Springer Science & Business Media
Page : 180 pages
File Size : 50,5 Mb
Release : 2011-06-21
Category : Medical
ISBN : 9781441980021

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Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference by Maria I. New,Joe Leigh Simpson Pdf

Proceedings of the 2nd World Conference – Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 – 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.

Author : Maria I. New,Bert O'Malley,Gary D. Hammer,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Mone Zaidi,Ahmed Khattab,Anne MacDonald
Publisher : Academic Press
Page : 470 pages
File Size : 46,7 Mb
Release : 2023-06-14
Category : Science
ISBN : 9780128214251

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Genetic Steroid Disorders by Maria I. New,Bert O'Malley,Gary D. Hammer,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Mone Zaidi,Ahmed Khattab,Anne MacDonald Pdf

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Author : William A. Petit,William Petit,Christine A. Adamec
Publisher : Infobase Publishing
Page : 353 pages
File Size : 40,5 Mb
Release : 2005
Category : Medical
ISBN : 9780816066384

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The Encyclopedia of Endocrine Diseases and Disorders by William A. Petit,William Petit,Christine A. Adamec Pdf

More than 600 A-to-Z entries cover issues related to menOCOs physical and mental health and well-being, including physiology, life span, diseases and conditions (including treatment protocols, procedures, and surgeries), genetics, medications, vitamins and supplements, psychology, sports medicine, sexual health, relationships, menOCOs fertility, fatherhood, and more. Allopathic, complementary, and integrative approaches to menOCOs health are also discussed. An extensive bibliography, a directory of leading menOCOs health research centers and organizations, and a glossary of key terms round out this comprehensive reference."