Genetics Of Endocrine Diseases And Syndromes

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Genetics of Endocrine Diseases and Syndromes

Author : Peter Igaz
Publisher : Springer Nature
ISBN 13 : 3030259056
Total Pages : 476 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Diagnosis of Endocrine Disorders

Author : Roy E. Weiss
Publisher : Academic Press
ISBN 13 : 0128011343
Total Pages : 462 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetic Diagnosis of Endocrine Disorders by : Roy E. Weiss

Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 in Endocrinology

Author : John D. Baxter
Publisher : Lippincott Raven
ISBN 13 :
Total Pages : 792 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetics in Endocrinology by : John D. Baxter

Download or read book Genetics in Endocrinology written by John D. Baxter and published by Lippincott Raven. This book was released on 2002 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Pathology and Genetics of Tumours of Endocrine Organs

Author : Ronald A. DeLellis
Publisher : IARC
ISBN 13 : 9789283224167
Total Pages : 324 pages
Book Rating : 4.2/5 (241 download)

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Book Synopsis Pathology and Genetics of Tumours of Endocrine Organs by : Ronald A. DeLellis

Download or read book Pathology and Genetics of Tumours of Endocrine Organs written by Ronald A. DeLellis and published by IARC. This book was released on 2004 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003

Genetics of Bone Biology and Skeletal Disease

Author : Rajesh V. Thakker
Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 880 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Genetic Steroid Disorders

Author : Maria I. New
Publisher : Academic Press
ISBN 13 : 0128214252
Total Pages : 470 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Genetic Steroid Disorders by : Maria I. New

Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Handbook of Clinical Adult Genetics and Genomics

Author : Shweta Dhar
Publisher : Academic Press
ISBN 13 : 0128173459
Total Pages : 530 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar

Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Environmental Endocrinology

Author : I. Assenmacher
Publisher : Springer Science & Business Media
ISBN 13 : 3642669816
Total Pages : 344 pages
Book Rating : 4.6/5 (426 download)

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Book Synopsis Environmental Endocrinology by : I. Assenmacher

Download or read book Environmental Endocrinology written by I. Assenmacher and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: From 11 to 15 July 1977 about 60 physiologists, endo crinologists, ecologists and other biologists from 14 countries convened at the University Montpellier for a symposium on Environmental Endocrinology. This meet ing was organized as a Satellite Symposium of the 27th International Congress of Physiological Sciences, Paris, 18-23 July 1977. This volume is a record of the com munications presented at the symposium. The objectives of the program were to examine the role of the endocrine system in a wide spectrum of adjustments and adaptations to changes in environmental conditions by various spe cies of animals, including man, and to promote an ex change of ideas among investigators who have approached these functions from diverse aspects. The diversity of the information and ideas communicated is great. Of necessity, they represent only an extremely modest se lection of the many facets of endocrine function in the interaction of animals with their environments. Be yond the usefulness of the communications individually, we hope that they collectively demonstrate the substan tial heuristic value of the concept of environmental endocrinology as it was perceived by the participants. We acknowledge gratefully the kindness and sympathy of Professor Jaques ROUZAUD, President of the University of Montpellier II, for his generous extension of the hospitality of the University to the Symposium. We are most grateful to Mrs. Monique VIEU who effected so well the secretarial organization of the Sympos.

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Mitochondrial Medicine

Author : Saskia Koene
Publisher :
ISBN 13 : 9789081773706
Total Pages : 135 pages
Book Rating : 4.7/5 (737 download)

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Book Synopsis Mitochondrial Medicine by : Saskia Koene

Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pheochromocytoma

Author : Karel Pacak
Publisher : John Wiley & Sons
ISBN 13 : 0470766387
Total Pages : 184 pages
Book Rating : 4.4/5 (77 download)

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Book Synopsis Pheochromocytoma by : Karel Pacak

Download or read book Pheochromocytoma written by Karel Pacak and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Endocrinology

Author : S.S. Nussey
Publisher : CRC Press
ISBN 13 : 9780203450437
Total Pages : 382 pages
Book Rating : 4.4/5 (54 download)

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Book Synopsis Endocrinology by : S.S. Nussey

Download or read book Endocrinology written by S.S. Nussey and published by CRC Press. This book was released on 2001-06-15 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Braun-Falco ́s Dermatology

Author : Walter H.C. Burgdorf
Publisher : Springer
ISBN 13 : 9783540293163
Total Pages : 0 pages
Book Rating : 4.2/5 (931 download)

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Book Synopsis Braun-Falco ́s Dermatology by : Walter H.C. Burgdorf

Download or read book Braun-Falco ́s Dermatology written by Walter H.C. Burgdorf and published by Springer. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.

Principles and Practice of Endocrinology and Metabolism

Author : Kenneth L. Becker
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781717502
Total Pages : 2500 pages
Book Rating : 4.7/5 (175 download)

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Book Synopsis Principles and Practice of Endocrinology and Metabolism by : Kenneth L. Becker

Download or read book Principles and Practice of Endocrinology and Metabolism written by Kenneth L. Becker and published by Lippincott Williams & Wilkins. This book was released on 2001 with total page 2500 pages. Available in PDF, EPUB and Kindle. Book excerpt: Established as the foremost text in the field, Principles and Practice of Endocrinology and Metabolism is now in its thoroughly revised, updated Third Edition. This practical, clinically relevant, and comprehensive text covers the entire field of endocrinology and metabolism, including the diffuse endocrine system; morphology and physiology; diagnosis and treatment of endocrine diseases; endocrinology of the female; hormones and cancer; and much more. The Third Edition contains new chapters reflecting the latest advances and features expanded coverage of genetics and the endocrinology of sepsis. More than 1,400 illustrations complement the text. A drug formulary appears at the back of the book.

Williams Textbook of Endocrinology

Author : Robert Hardin Williams
Publisher : W B Saunders Company
ISBN 13 : 9780721691848
Total Pages : 1927 pages
Book Rating : 4.6/5 (918 download)

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Book Synopsis Williams Textbook of Endocrinology by : Robert Hardin Williams

Download or read book Williams Textbook of Endocrinology written by Robert Hardin Williams and published by W B Saunders Company. This book was released on 2003 with total page 1927 pages. Available in PDF, EPUB and Kindle. Book excerpt: The state-of-the-art, tenth edition of endocrinology's classic text bridges the gap between basic science and endocrinology clinical practice. Thoroughly revised and updated, it includes new material on the thyroid and diabetes mellitus to reflect today's explosive increase in knowledge. Written by an outstanding team of authors, the 10th edition features numerous new authors who provide fresh perspectives. Presents a wealth of clinical information in a manageable size and format Contributors are at the forefronts of their disciplines Serves as a bridge between basic science and clinical endocrinology Diabetes mellitus and it complications has been greatly expanded and now includes 3 separate chapters. 4 new chapters Two new editors provide a fresh perspective on the material Figures have been added to the Diabetes Mellitus chapters Much of the art has been revised and includes new algorithms in many chapters Access to abstracts is available through Medline With 71 expert contributors

Essentials of Pediatric Anesthesiology

Author : Alan David Kaye
Publisher : Cambridge University Press
ISBN 13 : 1107698685
Total Pages : 435 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis Essentials of Pediatric Anesthesiology by : Alan David Kaye

Download or read book Essentials of Pediatric Anesthesiology written by Alan David Kaye and published by Cambridge University Press. This book was released on 2014-10-16 with total page 435 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a clinically relevant and easy-to-read review of all key topics, written and edited by leading pediatric anesthesiology physicians.

Harrison's Endocrinology, 3E

Author : J. Larry Jameson
Publisher : McGraw Hill Professional
ISBN 13 : 0071814876
Total Pages : 560 pages
Book Rating : 4.0/5 (718 download)

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Book Synopsis Harrison's Endocrinology, 3E by : J. Larry Jameson

Download or read book Harrison's Endocrinology, 3E written by J. Larry Jameson and published by McGraw Hill Professional. This book was released on 2013-03-22 with total page 560 pages. Available in PDF, EPUB and Kindle. Book excerpt: Endocrinology – as only HARRISON’S can cover it Featuring a superb compilation of chapters on endocrinology that appear in Harrison’s Principles of Internal Medicine, Eighteenth Edition, this concise, full-color clinical companion delivers the latest knowledge in the field backed by the scientific rigor and authority that have defined Harrison’s. You will find content from renowned editors and contributors in a carry-anywhere presentation that is ideal for the classroom, clinic, ward, or exam/certification preparation. Features An organization that reflects the physiologic roots of endocrinology: Pituitary, Thyroid, and Adrenal Disorders; Reproductive Endocrinology; Diabetes Mellitus, Obesity, Lipoprotein Metabolism; Disorders Affecting Multiple Endocrine Systems; and Disorders of Bone and Calcium Metabolism An important introduction that uses numerous examples of translational research to link genetics, cell biology, and physiology with pathophysiology and treatment Integration of pathophysiology with clinical management 108 high-yield questions and answers drawn from Harrison’s Principles of Internal Medicine Self-Assessment and Board Review, 18e Updates and new developments since the publication of Harrison’s Principles of Internal Medicine, 18e 29 chapters written by physicians who are recognized experts in the field of endocrinology Helpful appendix of laboratory values of clinical importance