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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
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
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.
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.
Author: C.A. Stratakis
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318023310
Category : Medical
Languages : en
Pages : 202
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Book Description
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: 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.
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.
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.
Author: Alfredo Ulloa-Aguirre
Publisher: Academic Press
ISBN: 0128198028
Category : Science
Languages : en
Pages : 488
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Book Description
Cellular Endocrinology in Health and Disease, Second Edition, describes the underlying basis of endocrine function, providing an important tool to understand the fundamentals of endocrine diseases. Delivering a comprehensive review of the basic science of endocrinology, from cell biology to human disease, this work explores and dissects the function of a number of cellular systems. The new edition provides an understanding of how endocrine glands function by integrating information resulting in biological effects on both local and systemic levels, also providing new information on the molecular physiopathogenesis of endocrine neoplasic cells. The new edition expands the most used chapters from the first edition and proposes a series of substitutions and additions to the table of contents. New chapters cover signaling, brown adipose tissue, hypothalamic cell models, cellular basis of insulin resistance, genetics and epigenetics of neuroendocrine tumors, and a series of chapters on endocrine-related cancer. Providing content that crosses disciplines, Cellular Endocrinology in Health and Disease, Second Edition, details how cellular endocrine function contributes to system physiology and mediates endocrine disorders. A methods section proves novel and useful approaches across research focus that will be attractive to medical students, residents, and specialists in the field of endocrinology, as well as to those interested in cellular regulation. Editors Alfredo Ulloa-Aguirre and Ya-Xiong Tao, experts in molecular and cellular aspects of endocrinology, deliver contributions carefully selected for relevance, impact, and clarity of expression from leading field experts Explores endocrine cells biology in normal and pathologic conditions Covers new aspects of endocrine cell function in distinct tissues Provides a view into the biological effect in local and systemic levels 15 new chapters covering the recent developments in the field
Author: M. Sperling
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 826
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Book Description
This New Edition is today's most comprehensive, definitive reference in the field, incorporating all of today's explosive discoveries in basic and clinical endocrinology. Its reliable, cutting-edge guidance for a full range of problems is combined with a wealth of information on the physiological, biochemical, and genetic basis at the molecular biological level. Dr. Mark A. Sperling and 33 contributing experts bring readers the benefits of discovery at the bench and its application at the bedside. New chapters, extensive revisions, and compelling updates will keep readers at the forefront of the diagnosis and management of endocrine disease in children. Incorporates the explosive growth in molecular biology as it relates to developmental and pediatric endocrinology. Extensively revised and updated chapters throughout reflect the latest information. Coverage of up-to-the-minute topics in the field, including molecular, biochemical, and clinical basis of hyperinsulinemic hypoglycemia of infancy and childhood diabetes mellitus energy balance/obesity growth hormone paradigms of mechanisms of hormone action, and others Contributions from new authors from distinguished institutions Numerous brand-new illustrations depict the most current information, particularly the basic science/genetic basis of certain entities
Author: Gill Rumsby
Publisher: Garland Science
ISBN: 1000144690
Category : Science
Languages : en
Pages : 319
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Book Description
This volume in the Human Molecular Genetics series is an invaluable text for endocrinologists wishing to update their knowledge. It also provides an excellent grounding in the basic genetics of molecular endocrinology and relevant analytical techniques.
