Genetic Diagnosis Of Endocrine Disorders

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Genetic Diagnosis of Endocrine Disorders

Roy E. Weiss,Samuel Refetoff
Genetic Diagnosis of Endocrine Disorders Book PDF

Author : Roy E. Weiss,Samuel Refetoff
Publisher : Academic Press
Page : 472 pages
File Size : 44,6 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

Genetics of Endocrine Diseases and Syndromes

Peter Igaz,Attila Patócs
Genetics of Endocrine Diseases and Syndromes Book PDF

Author : Peter Igaz,Attila Patócs
Publisher : Springer Nature
Page : 476 pages
File Size : 48,7 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.

Genetics for Endocrinologists

Benjamin Glaser,Harry J. Hirsch
Genetics for Endocrinologists Book PDF

Author : Benjamin Glaser,Harry J. Hirsch
Publisher : Remedica Books
Page : 436 pages
File Size : 47,5 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.

Genetics in Endocrinology

John D. Baxter,Shlomo Melmed,Maria I. New
Genetics in Endocrinology Book PDF

Author : John D. Baxter,Shlomo Melmed,Maria I. New
Publisher : Lippincott Raven
Page : 792 pages
File Size : 51,8 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.

Diagnostics of Endocrine Function in Children and Adolescents

Michael B. Ranke,P.-E. Mullis
Diagnostics of Endocrine Function in Children and Adolescents Book PDF

Author : Michael B. Ranke,P.-E. Mullis
Publisher : Karger Medical and Scientific Publishers
Page : 548 pages
File Size : 55,6 Mb
Release : 2011
Category : Medical
ISBN : 9783805594141

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Diagnostics of Endocrine Function in Children and Adolescents by Michael B. Ranke,P.-E. Mullis Pdf

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 also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.

Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America E-Book

Constantine A. Stratakis
Genetics of Endocrine Disorders An Issue of Endocrinology and Metabolism Clinics of North America E Book Book PDF

Author : Constantine A. Stratakis
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 48,6 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.

Endocrinology

S.S. Nussey,S.A. Whitehead
Endocrinology Book PDF

Author : S.S. Nussey,S.A. Whitehead
Publisher : CRC Press
Page : 382 pages
File Size : 53,7 Mb
Release : 2001-06-15
Category : Medical
ISBN : 0203450434

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Endocrinology by S.S. Nussey,S.A. Whitehead Pdf

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

Polyendocrine Disorders and Endocrine Neoplastic Syndromes

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

Author : Annamaria Colao,Marie-Lise Jaffrain-Rea,Albert Beckers
Publisher : Springer
Page : 0 pages
File Size : 41,5 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.

Management of Prader-Willi Syndrome

Merlin Butler,Phillip D.K. Lee,Barbara Y. Whitman
Management of Prader Willi Syndrome Book PDF

Author : Merlin Butler,Phillip D.K. Lee,Barbara Y. Whitman
Publisher : Springer Science & Business Media
Page : 569 pages
File Size : 44,6 Mb
Release : 2006-10-11
Category : Medical
ISBN : 9780387335360

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Management of Prader-Willi Syndrome by Merlin Butler,Phillip D.K. Lee,Barbara Y. Whitman Pdf

Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Endocrine Pathology with Online Resource

Ozgur Mete,Sylvia L. Asa
Endocrine Pathology with Online Resource Book PDF

Author : Ozgur Mete,Sylvia L. Asa
Publisher : Cambridge University Press
Page : 1091 pages
File Size : 49,8 Mb
Release : 2016-07-14
Category : Medical
ISBN : 9781107443310

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Endocrine Pathology with Online Resource by Ozgur Mete,Sylvia L. Asa Pdf

Comprehensive and critical review of the current clinical, radiologic, biochemical, molecular, cytogenetic, immunologic and histopathologic aspects of endocrine disorders.

Epidemiology of Endocrine Tumors

Jahangir Moini,Craig Badolato,Raheleh Ahangari
Epidemiology of Endocrine Tumors Book PDF

Author : Jahangir Moini,Craig Badolato,Raheleh Ahangari
Publisher : Elsevier
Page : 570 pages
File Size : 40,6 Mb
Release : 2021-03-03
Category : Medical
ISBN : 9780128232668

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Epidemiology of Endocrine Tumors by Jahangir Moini,Craig Badolato,Raheleh Ahangari Pdf

Epidemiology of Endocrine Tumors brings current data and clinical research into one source for a multidisciplinary audience. The book discusses the prevalence, incidence, etiology, pathology, diagnosis and treatment of various endocrine tumors. With clear and focused writing, it is essential reading for healthcare professionals, endocrinologists, oncologists, and public health professionals. Users will be able to bridge the knowledge gap that exists in the comprehensive coverage surrounding the epidemiology of endocrine tumors. Globally, the prevalence and incidence of endocrine tumors is high. This audience needs a treatise where they can gain a broad overview of endocrine tumors with a focus on epidemiology. Supplies information about the epidemiology of various endocrine tumors, both benign and malignant, to endocrinologists, oncologists and related health care professionals Focuses on the impact upon costs and patient deaths due to complications of these tumors Describes how endocrine tumors affect various age groups and ethnicities, discussing the prevention of endocrine tumors Presents chapters on Cancer Problem, Specific Endocrine Tumors, Prevention, Detection and Diagnosis, and Treatment of Endocrine Tumors Provides review questions with an answer key and detailed glossary

Pheochromocytoma

Karel Pacak,Graeme Eisenhofer,Jacques Lenders
Pheochromocytoma Book PDF

Author : Karel Pacak,Graeme Eisenhofer,Jacques Lenders
Publisher : John Wiley & Sons
Page : 184 pages
File Size : 43,6 Mb
Release : 2008-04-15
Category : Medical
ISBN : 9780470766385

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Pheochromocytoma by Karel Pacak,Graeme Eisenhofer,Jacques Lenders Pdf

Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma

Endocrine Hypertension

Karel Pacak,Graeme Eisenhofer
Endocrine Hypertension Book PDF

Author : Karel Pacak,Graeme Eisenhofer
Publisher : Unknown
Page : 0 pages
File Size : 50,6 Mb
Release : 2002
Category : Adrenal Gland Neoplasms
ISBN : 1573314188

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Endocrine Hypertension by Karel Pacak,Graeme Eisenhofer Pdf

Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.

The Human Hypothalamus

Dick F. Swaab,Ruud M. Buijs,Paul J. Lucassen,Ahmad Salehi,Felix Kreier
The Human Hypothalamus Book PDF

Author : Dick F. Swaab,Ruud M. Buijs,Paul J. Lucassen,Ahmad Salehi,Felix Kreier
Publisher : Elsevier
Page : 570 pages
File Size : 50,7 Mb
Release : 2021-07-04
Category : Science
ISBN : 9780128206843

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The Human Hypothalamus by Dick F. Swaab,Ruud M. Buijs,Paul J. Lucassen,Ahmad Salehi,Felix Kreier Pdf

The Human Hypothalamus: Neuroendocrine Disorders, Volume 181 in the Handbook of Clinical Neurology series, provides comprehensive summaries of recent research on the brain and nervous system as they relate to clinical neurology. This volume summarizes the role of the hypothalamus in neuroendocrine disorders, identifying the mechanism of action, disorder etiology, and best practices for assessment and treatment. Disorders covered include pituitary hypothalamic disorders of development and growth, hypothalamic tumor related disorders, hypothalamic autoimmune disorders and infection, disorders of vasopressin, water and sodium homeostasis, eating disorders, and gonadotropic hormone regulation disorders. Discusses the importance of the hypothalamus in human growth and development Reviews hypothalamic related tumors, as well as pituitary, autoimmune, vasopressin and hormone regulation disorders Includes metabolic and eating disorders Identifies mechanisms of disease action and etiology Provides best practice information for assessment and treatment

Management of Genetic Syndromes

Suzanne B. Cassidy,Judith E. Allanson
Management of Genetic Syndromes Book PDF

Author : Suzanne B. Cassidy,Judith E. Allanson
Publisher : John Wiley & Sons
Page : 1678 pages
File Size : 53,6 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210673

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Management of Genetic Syndromes by Suzanne B. Cassidy,Judith E. Allanson Pdf

The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics