Hereditary Disorders Of Bone Development

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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

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
ISBN 13 : 0190626658
Total Pages : 929 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Treasury of Human Inheritance: Hereditary disorders of bone development

Author : Karl Pearson
Publisher :
ISBN 13 :
Total Pages : 236 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Treasury of Human Inheritance: Hereditary disorders of bone development by : Karl Pearson

Download or read book Treasury of Human Inheritance: Hereditary disorders of bone development written by Karl Pearson and published by . This book was released on 1925 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Treasury of Human Inheritance

Author : Karl Pearson
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (67 download)

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Book Synopsis Treasury of Human Inheritance by : Karl Pearson

Download or read book Treasury of Human Inheritance written by Karl Pearson and published by . This book was released on 1912 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pathology of Bone and Joint Disorders Print and Online Bundle

Author : Edward F. McCarthy
Publisher : Cambridge University Press
ISBN 13 : 1107041236
Total Pages : 385 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Pathology of Bone and Joint Disorders Print and Online Bundle by : Edward F. McCarthy

Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Hereditary Disorders of Bone Development

Author : Percy Stocks
Publisher :
ISBN 13 :
Total Pages : 182 pages
Book Rating : 4.:/5 (289 download)

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Book Synopsis Hereditary Disorders of Bone Development by : Percy Stocks

Download or read book Hereditary Disorders of Bone Development written by Percy Stocks and published by . This book was released on 1925 with total page 182 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Bone Health and Osteoporosis

Author : United States Public Health Service
Publisher :
ISBN 13 : 9781410219275
Total Pages : 0 pages
Book Rating : 4.2/5 (192 download)

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Book Synopsis Bone Health and Osteoporosis by : United States Public Health Service

Download or read book Bone Health and Osteoporosis written by United States Public Health Service and published by . This book was released on 2004-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This first-ever Surgeon General's Report on bone health and osteoporosis illustrates the large burden that bone disease places on our Nation and its citizens. Like other chronic diseases that disproportionately affect the elderly, the prevalence of bone disease and fractures is projected to increase markedly as the population ages. If these predictions come true, bone disease and fractures will have a tremendous negative impact on the future well-being of Americans. But as this report makes clear, they need not come true: by working together we can change the picture of aging in America. Osteoporosis, fractures, and other chronic diseases no longer should be thought of as an inevitable part of growing old. By focusing on prevention and lifestyle changes, including physical activity and nutrition, as well as early diagnosis and appropriate treatment, Americans can avoid much of the damaging impact of bone disease and other chronic diseases. This Surgeon General's Report brings together for the first time the scientific evidence related to the prevention, assessment, diagnosis, and treatment of bone disease. More importantly, it provides a framework for moving forward. The report will be another effective tool in educating Americans about how they can promote bone health throughout their lives. This first-ever Surgeon General's Report on bone health and osteoporosis provides much needed information on bone health, an often overlooked aspect of physical health. This report follows in the tradition of previous Surgeon Generals' reports by identifying the relevant scientific data, rigorously evaluating and summarizing the evidence, and determining conclusions.

Hereditary Disorders of Bone Development

Author : Francis Galton Laboratory for National Eugenics (London)
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (64 download)

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Book Synopsis Hereditary Disorders of Bone Development by : Francis Galton Laboratory for National Eugenics (London)

Download or read book Hereditary Disorders of Bone Development written by Francis Galton Laboratory for National Eugenics (London) and published by . This book was released on 1925 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press
ISBN 13 : 0190626666
Total Pages : 929 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
ISBN 13 : 9780195214741
Total Pages : 306 pages
Book Rating : 4.2/5 (147 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2002 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely renovated, with the help of two new co-authors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenced to illustrate both the degree of variability of a given disorder and its changs with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, pediatricians, and orthopedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in cominations, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.

The Genetics of Osteoporosis and Metabolic Bone Disease

Author : Michael J. Econs
Publisher : Springer Science & Business Media
ISBN 13 : 1592590330
Total Pages : 465 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis The Genetics of Osteoporosis and Metabolic Bone Disease by : Michael J. Econs

Download or read book The Genetics of Osteoporosis and Metabolic Bone Disease written by Michael J. Econs and published by Springer Science & Business Media. This book was released on 2000-05-12 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosive growth in the field of molecular biology over the last two decades has started to make a great impact on clinical medicine. Genes have been cloned for diseases that were poorly understood only a decade ago. Additionally, investigators are increasingly aware that there are strong genetic components to complex disorders, such as osteoporosis, that are not classically thought of as genetic disorders. New insights into the pathogenesis of metabolic bone diseases have been obtained from investigations into the molecular biology of these diseases and new therapies will become available based on these new insights. In The Genefies of Osteoporosis and Metabolie Bane Disease, I have assembled an internationally renowned group of experts to write the various chapters. Each of the authors is an expert in his/her field who is currently performing research on the content of their chapter and have made important contributions to the understanding of the clinical fea tures and pathophysiology of metabolic bone disease and genetics. The first part of The Genefies of Osteoporosis and Metabolie Bane Disease addresses issues related to genetic contributions to the development of osteoporosis and the many factors that must be considered when searching for genesthat predispose to osteoporosis. The second sec tion addresses recent advances in the clinical and molecular biological aspects of inherited metabolic bone disorders. The last section reviews the latest techniques for finding genes that predispose to metabolic bone diseases.

The Treasury of Human Inheritance

Author : Percy Stocks
Publisher :
ISBN 13 :
Total Pages : 182 pages
Book Rating : 4.:/5 (926 download)

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Book Synopsis The Treasury of Human Inheritance by : Percy Stocks

Download or read book The Treasury of Human Inheritance written by Percy Stocks and published by . This book was released on 1925 with total page 182 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Hereditary Disorders of Bone Development ... By P. Stocks ... with the assistance of Amy Barrington, etc

Author : Percy STOCKS
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (81 download)

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Book Synopsis Hereditary Disorders of Bone Development ... By P. Stocks ... with the assistance of Amy Barrington, etc by : Percy STOCKS

Download or read book Hereditary Disorders of Bone Development ... By P. Stocks ... with the assistance of Amy Barrington, etc written by Percy STOCKS and published by . This book was released on 1925 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Treasury of Human Inheritance

Author : Karl Pearson
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (928 download)

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Book Synopsis Treasury of Human Inheritance by : Karl Pearson

Download or read book Treasury of Human Inheritance written by Karl Pearson and published by . This book was released on 1925 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Treasury of Human Inheritance: Hereditary disorders of bone development

Author : Karl Pearson
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (157 download)

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Book Synopsis Treasury of Human Inheritance: Hereditary disorders of bone development by : Karl Pearson

Download or read book Treasury of Human Inheritance: Hereditary disorders of bone development written by Karl Pearson and published by . This book was released on 1909 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cartilage and Bone Development and Its Disorders

Author : C. Camacho-Hübner
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805597932
Total Pages : 132 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Cartilage and Bone Development and Its Disorders by : C. Camacho-Hübner

Download or read book Cartilage and Bone Development and Its Disorders written by C. Camacho-Hübner and published by Karger Medical and Scientific Publishers. This book was released on 2011-08-23 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: In systemic childhood diseases, including cancer, gastrointestinal, pulmonary and cardiac disorders, childhood growth is severely impaired. In addition, almost 400 known genetic diseases inhibit the ability of the growth plate to form new bone, leaving affected children with growth failure and bony deformities which can severely impact their quality of life and may lead to morbidity and early mortality.This book provides a comprehensive review of bone and cartilage development, growth and disease. Focusing on novel treatment strategies, regulatory signals and molecular mechanisms are discussed in relation to the diseases affecting them. Furthermore, novel methodologies in bone and cartilage research based on recent advances in skeletal stem cell biology, cartilage tissue engineering and allele-specific gene silencing is covered.Providing insight into the basic mechanisms of bone growth, structure and metabolism, research methodology, as well as discussing the clinical management of related diseases, this book is of particular value to physicians with a special interest in bone and cartilage biology; in particular endocrinologists and pediatric endocrinologists that see patients with growth disorders, osteoporosis, osteogenesis imperfecta, and skeletal dysplasias.

Bone Diseases

Author : Claus-Peter Adler
Publisher : Springer Science & Business Media
ISBN 13 : 9783540650614
Total Pages : 630 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Bone Diseases by : Claus-Peter Adler

Download or read book Bone Diseases written by Claus-Peter Adler and published by Springer Science & Business Media. This book was released on 1999-12-09 with total page 630 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive description of macroscopic, microscopic, and radiological methods for the diagnosis of bone diseases. The book presents all the procedures involved in diagnosis, using not only radiological and histological techniques, but also modern immunohistochemical and scintigraphic methods. Succinct and well-structured therapeutic recommendations are provided for an array of bone diseases, making this a practice-oriented reference work for pathologists, radiologists, rheumatologists, and orthopedists.