Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Download or read book Seven Daughters of Eve written by Bryan Sykes and published by W. W. Norton & Company. This book was released on 2002-05-17 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: This national bestseller, now in paperback, reveals how all humans are descended from seven prehistoric women--the Seven Daughters of Eve.

Download or read book Genes written by Benjamin Lewin and published by John Wiley & Sons. This book was released on 1985 with total page 744 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cells obey the laws of physics and chemistry; DNA as a store of information; Genes are metable units; DNA is the genetic material; The topology of nucleic acids; Isolating the gene; Turning genes into proteins; The assembly line for protein sysnthesis; Transfer RNA: the translational adaptor; The ribosome translation factory; The messenger RNA templlate; Controlling gene expression by transcription; RNA polymerase-promoter interactions control initiation; A panoply of operons: the lactose paradigm and others; Control at termination: attenuation and antitermination; Lytic cascades and lysogenic repression; Perpetuation of DNA; The replicon: unit of replication; The apparatus for DNA replication; Systems that safeguard DNA; Constitution of the eukaryotic genome; The extraordinary power of DNA technology; A continuum of sequences includes structural genes; The organization of interrupted genes; Clusters of relates sequences; Structural genes belond to families of various sizes; Genomes sequestered in organelles; Organization of simple sequence DNA; Reachiong maturity: RNA processing; Cutting and trimming stable RNA; RNNA as catalyst: mechanisms of splicing; Control of RNA processing; The packaging of DNA; About genomes and chromosomes; Chromatin structure: the nucleosome; The nature of active chromatin; The dynamic genome: DNA in flux; Recombination and other topological manipulations of DNA; Transposable elements in bacteria; Mobile elements in eukaryotes; Enginnering changes in the genome; Genes in development; Rearrangements and the generation of immune diversity; Changing gene organization from within and without; Gene regulation: changing patterns of expression; Oncogenes: aberrant gene expression and cancer; Landmark changes in perspectives.

Download or read book Genes 7 written by Benjamin Lewin and published by Oxford University Press, USA. This book was released on 2000 with total page 1016 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genes VII gives an integrated and authoritative account of the structure and function of genes. It is thoroughly up to date with the latest research and thinking in the field. Successive editions have provided an integrated account of the whole field of modern molecular genetics and thisedition continues that approach, providing a new synthesis and continuing the greater emphasis on how genes function in their biological context. In a change to all previous editions, which started with a traditional analysis of formal genetics, this seventh edition has been organised to present thesubject in the context of the eukaryotic gene as revealed in the last decade, an analysis based directly on the molecular properties of the gene itself.From the Preface: "The thesis of Genes is that only by understanding the structure and function of the gene itself will we be able in turn to understand the operation of the genome as a whole. Although the emphasis has shifted to the characterization of eukaryotic genes, and therefore to theiranalysis by the direct techniques of molecular biology rather than the subtlety of genetics, the classical approach remains intellectually penetrating. It remains an aim of this book to integrate both approaches in the context of a unified approach to prokaryotes and eukaryotes."

Download or read book Gene Expression to Neurobiology and Behaviour written by Oliver Braddick and published by Elsevier. This book was released on 2011-09-26 with total page 374 pages. Available in PDF, EPUB and Kindle. Book excerpt: How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioral capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact? This volume of Progress in Brain Research links findings on the structural development of the human brain, the expression of genes in behavioral and cognitive phenotypes, environmental effects on brain development, and developmental processes in perception, action, attention, cognitive control, social cognition, and language, in an attempt to answer these questions. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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

Download or read book Handbook of Epigenetics written by Trygve O Tollefsbol and published by Academic Press. This book was released on 2017-07-10 with total page 684 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. - Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field - Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine - Written at a verbal and technical level that can be understood by scientists and college students - Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

Download or read book Environmental Stressors and Gene Responses written by J.M. Storey and published by Elsevier. This book was released on 2000-07-31 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cell and Molecular Responses to Stress is a new multi-volume book series from Elsevier Science that focuses on how organisms respond at a molecular level to environmental stresses imposed upon them. All organisms deal with variations in multiple environmental factors including temperature, oxygen, salinity, and water availability. Many show amazing tolerances to extreme stress with remarkable biochemical adaptations that allow life to persist under very difficult circumstances. This series explores the molecular mechanisms by which cells and organisms respond to stress, focusing on the variations in metabolic response that allow some cells and organisms to deal with extreme stress, others to endure stress within strict limits, and others to have a very low tolerance for changes in environmental parameters.Articles from within the series highlight the elastic limits of molecular responses in Nature, with examples drawn from animal, plant and bacteria systems.Volume 1, begins by considering some of the roles of environmental stress in determining the geographic distribution of animals and in promoting species divergence and then explores gene expression and metabolic responses to environmental stress with examples of adaptation to high and low temperature, osmotic, anoxia/ischemia, desiccation, high pressure and heavy metal stresses.

Download or read book Health Risks from Exposure to Low Levels of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.

Download or read book Genes 7 written by Benjamin Lewin and published by Oxford University Press, USA. This book was released on 2000 with total page 1016 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genes VII gives an integrated and authoritative account of the structure and function of genes. It is thoroughly up to date with the latest research and thinking in the field. Successive editions have provided an integrated account of the whole field of modern molecular genetics and thisedition continues that approach, providing a new synthesis and continuing the greater emphasis on how genes function in their biological context. In a change to all previous editions, which started with a traditional analysis of formal genetics, this seventh edition has been organised to present thesubject in the context of the eukaryotic gene as revealed in the last decade, an analysis based directly on the molecular properties of the gene itself.From the Preface: "The thesis of Genes is that only by understanding the structure and function of the gene itself will we be able in turn to understand the operation of the genome as a whole. Although the emphasis has shifted to the characterization of eukaryotic genes, and therefore to theiranalysis by the direct techniques of molecular biology rather than the subtlety of genetics, the classical approach remains intellectually penetrating. It remains an aim of this book to integrate both approaches in the context of a unified approach to prokaryotes and eukaryotes."

Download or read book Are We Slaves to our Genes written by Denis R. Alexander and published by Cambridge University Press. This book was released on 2020-10 with total page 253 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic differences can influence differences in our human behaviours, but only occasionally undermine the reality of our free will.

Download or read book Our Genes written by Rasmus Grønfeldt Winther and published by Cambridge University Press. This book was released on 2022-12-31 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Situated at the intersection of natural science and philosophy, Our Genes explores historical practices, investigates current trends, and imagines future work in genetic research to answer persistent, political questions about human diversity. Readers are guided through fascinating thought experiments, complex measures and metrics, fundamental evolutionary patterns, and in-depth treatment of exciting case studies. The work culminates in a philosophical rationale, based on scientific evidence, for a moderate position about the explanatory power of genes that is often left unarticulated. Simply put, human evolutionary genomics - our genes - can tell us much about who we are as individuals and as collectives. However, while they convey scientific certainty in the popular imagination, genes cannot answer some of our most important questions. Alternating between an up-close and a zoomed-out focus on genes and genomes, individuals and collectives, species and populations, Our Genes argues that the answers we seek point to rich, necessary work ahead.

Download or read book Revolutionary Biology written by David Barash and published by Routledge. This book was released on 2017-07-05 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is a revolution underway in biology. It is based on a new perception of bodies and genes, in which the former are the end product of the latter within the continuum of evolution. Twenty fi ve years after Richard Dawkins helped revolutionize our thinking about "selfi sh genes," it is time to reevaluate. Revolutionary Biology explains in simple, vivid terms what this exciting approach has to off er, and then applies its stunning insights to human beings. Th is novel perspective, galvanizes our understanding of how evolution works, what living things are all about and, not least, what it means to be human. Th e controversial disciplines of sociobiology and evolutionary psychology have generated startling insights into longstanding questions concerning the nature and purpose of families, altruism vs. selfi shness, and free will vs. biological determinism. Written by one of its foremost fi gures, Revolutionary Biology is a manifesto and educated layman's guide to this ongoing revolution.

Download or read book Modern Trends in Human Leukemia VII written by Rolf Neth and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 563 pages. Available in PDF, EPUB and Kindle. Book excerpt: Organized on behalf of the Deutsche Gesellschaft für Hämatologie und Onkologie, Hamburg, June 27/28, 1986

Download or read book The Princeton Guide to Evolution written by David A. Baum and published by Princeton University Press. This book was released on 2017-03-21 with total page 886 pages. Available in PDF, EPUB and Kindle. Book excerpt: The essential one-volume reference to evolution The Princeton Guide to Evolution is a comprehensive, concise, and authoritative reference to the major subjects and key concepts in evolutionary biology, from genes to mass extinctions. Edited by a distinguished team of evolutionary biologists, with contributions from leading researchers, the guide contains some 100 clear, accurate, and up-to-date articles on the most important topics in seven major areas: phylogenetics and the history of life; selection and adaptation; evolutionary processes; genes, genomes, and phenotypes; speciation and macroevolution; evolution of behavior, society, and humans; and evolution and modern society. Complete with more than 100 illustrations (including eight pages in color), glossaries of key terms, suggestions for further reading on each topic, and an index, this is an essential volume for undergraduate and graduate students, scientists in related fields, and anyone else with a serious interest in evolution. Explains key topics in some 100 concise and authoritative articles written by a team of leading evolutionary biologists Contains more than 100 illustrations, including eight pages in color Each article includes an outline, glossary, bibliography, and cross-references Covers phylogenetics and the history of life; selection and adaptation; evolutionary processes; genes, genomes, and phenotypes; speciation and macroevolution; evolution of behavior, society, and humans; and evolution and modern society

Download or read book The Theory of the Gene written by Thomas Hunt Morgan and published by . This book was released on 1926 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: