Genetics In Endocrinology Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Genetics In Endocrinology book. This book definitely worth reading, it is an incredibly well-written.
Author : John D. Baxter,Shlomo Melmed,Maria I. New Publisher : Lippincott Raven Page : 792 pages File Size : 50,6 Mb Release : 2002 Category : Medical ISBN : UOM:39015054255024
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.
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 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 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 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.
Molecular Endocrinology by Gill Rumsby,Dr Sheelagh Farrow Pdf
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.
Endocrine Tumor Syndromes and Their Genetics by C.A. Stratakis Pdf
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.
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.
The application of recombinant DNA techniques to endocrinology is an exciting area of biomedical research. These and other new methods have made it possible to clone many endocrine genes--such as those for insulin and growth hormone--to determine their nucleatide sequences, and to study their expression both in vitro and in vivo. Derived from a series of molecular endocrinology research seminars, this book covers the basics of gene cloning, structural analysis and the regulation of gene expression in selected endocrine systems. The first part focuses on analytical methods and experimental approaches, including DNA-mediated gene transfer, identification of tissue-specific transcription factors and regulatory sequences, in situ hybridization of mRNA, and gene mapping on human chromosomes. The second part presents molecular studies of various endocrine systems, each combining different approaches.
Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.
The Genetics of Type 2 Diabetes and Related Traits by Jose C. Florez Pdf
This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future.
Cellular Endocrinology in Health and Disease by Alfredo Ulloa-Aguirre,Ya-Xiong Tao Pdf
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
This book presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. Opinion leaders in the field present reviews on all relevant diseases of the hypothalamic-pituitary-thyroid axis. Sixteen chapters cover topics ranging from fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone action, cell transport and metabolism to iodine deficiency, autoimmune thyroid disease and thyroid tumors. Written by clinicians, the chapters provide in-depth information and current guidelines for clinical problems encountered in pediatric thyroidology. As a unique feature, a case seminar collection for each chapter presents typical patient histories providing key learning points and key references for clinical problem solving in family medicine, pediatric endocrinology and medical genetics. Providing a succinct update on clinical pediatric thyroidology, this book is an essential tool for pediatric and adult endocrinologists, as well as for general practitioners, pediatricians and medical geneticists.
