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Medical Genetics

Author : Lynn B. Jorde

Publisher :

Page : 0 pages

File Size : 49,44 MB

Release : 2003

Category : Genetic disorders

ISBN : 9780323035682

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Book Description

This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!



Introduction to Conservation Genetics

Author : Richard Frankham

Publisher : Cambridge University Press

Page : 643 pages

File Size : 33,21 MB

Release : 2010

Category : Conservation of natural resources

ISBN : 0521878470

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Book Description

This impressive author team brings the wealth of advances in conservation genetics into the new edition of this introductory text, including new chapters on population genomics and genetic issues in introduced and invasive species. They continue the strong learning features for students - main points in the margin, chapter summaries, vital support with the mathematics, and further reading - and now guide the reader to software and databases. Many new references reflect the expansion of this field. With examples from mammals, birds ...



What's in Your Genes?

Author : Katie McKissick

Publisher : Simon and Schuster

Page : 256 pages

File Size : 21,5 MB

Release : 2014-01-18

Category : Reference

ISBN : 1440567646

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Book Description

Get the low-down on genetics with easy-to-understand terms and clear explanations. From interpreting dominant and recessive genes to learning about mutations, this book shows the different factors that can determine a person's DNA.



A History of Genetics

Author : Alfred Henry Sturtevant

Publisher : CSHL Press

Page : 190 pages

File Size : 30,33 MB

Release : 2001

Category : Medical

ISBN : 9780879696078

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Book Description

In the small “Fly Room†at Columbia University, T.H. Morgan and his students, A.H. Sturtevant, C.B. Bridges, and H.J. Muller, carried out the work that laid the foundations of modern, chromosomal genetics. The excitement of those times, when the whole field of genetics was being created, is captured in this book, written in 1965 by one of those present at the beginning. His account is one of the few authoritative, analytic works on the early history of genetics. This attractive reprint is accompanied by a website, http://www.esp.org/books/sturt/history/ offering full-text versions of the key papers discussed in the book, including the world's first genetic map.



Genetics

Author : Burton Guttman

Publisher : The Rosen Publishing Group, Inc

Page : 321 pages

File Size : 25,90 MB

Release : 2011-01-15

Category : History

ISBN : 144881863X

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Book Description

Details the history of the study of genetics, from Mendel's discoveries to the decoding of the human genome, and explains the fundamentals of genetics, the function of genes, and DNA manipulation.



Clinical Ophthalmic Genetics and Genomics

Author : Graeme C.M. Black

Publisher : Elsevier

Page : 490 pages

File Size : 29,69 MB

Release : 2022-01-20

Category : Medical

ISBN : 0128139447

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Book Description

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader



Quantitative Genetics

Author : Armando Caballero

Publisher : Cambridge University Press

Page : 343 pages

File Size : 20,3 MB

Release : 2020-04-23

Category : Mathematics

ISBN : 1108481418

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Book Description

An up-to-date, accessible guide to the main concepts and applications of quantitative genetics.



Genomics and Society

Author : Dhavendra Kumar

Publisher : Academic Press

Page : 439 pages

File Size : 34,14 MB

Release : 2015-10-29

Category : Science

ISBN : 0127999213

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Book Description

Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine. - Addresses the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011 - Presents the core fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system - Describes a myriad of issues around consent, including confidentiality, rights, patenting, regulation, and more



Genetics and the Unsettled Past

Author : Keith Wailoo

Publisher : Rutgers University Press

Page : 371 pages

File Size : 35,90 MB

Release : 2012-03-15

Category : Social Science

ISBN : 0813553369

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Book Description

Our genetic markers have come to be regarded as portals to the past. Analysis of these markers is increasingly used to tell the story of human migration; to investigate and judge issues of social membership and kinship; to rewrite history and collective memory; to right past wrongs and to arbitrate legal claims and human rights controversies; and to open new thinking about health and well-being. At the same time, in many societies genetic evidence is being called upon to perform a kind of racially charged cultural work: to repair the racial past and to transform scholarly and popular opinion about the “nature” of identity in the present. Genetics and the Unsettled Past considers the alignment of genetic science with commercial genealogy, with legal and forensic developments, and with pharmaceutical innovation to examine how these trends lend renewed authority to biological understandings of race and history. This unique collection brings together scholars from a wide range of disciplines—biology, history, cultural studies, law, medicine, anthropology, ethnic studies, sociology—to explore the emerging and often contested connections among race, DNA, and history. Written for a general audience, the book’s essays touch upon a variety of topics, including the rise and implications of DNA in genealogy, law, and other fields; the cultural and political uses and misuses of genetic information; the way in which DNA testing is reshaping understandings of group identity for French Canadians, Native Americans, South Africans, and many others within and across cultural and national boundaries; and the sweeping implications of genetics for society today.



Genetics of Bone Biology and Skeletal Disease

Author : Rajesh V. Thakker

Publisher : Academic Press

Page : 880 pages

File Size : 19,51 MB

Release : 2017-10-31

Category : Science

ISBN : 0128041986

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Book Description

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