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Author : Victor Almon McKusick
Publisher :
ISBN 13 :
Total Pages : 238 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Morbid Anatomy of the Human Genome written by Victor Almon McKusick and published by . This book was released on 1988 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Ram S. Verma
Publisher : Elsevier Science Limited
ISBN 13 : 9781559385831
Total Pages : 447 pages
Book Rating : 4.3/5 (858 download)
Download or read book Morbid Anatomy of the Genome written by Ram S. Verma and published by Elsevier Science Limited. This book was released on 1993 with total page 447 pages. Available in PDF, EPUB and Kindle. Book excerpt: The technical advances in molecular biology have endowed us with a wealth of knowledge, which has allowed us to identify the cause of diseases not only at a single gene level but at a greater magnitude, where a substitution or deletion of a single base pair can be identified. Our present task is to establish a clear link between phenotype and nucleotide sequence. Obviously, a gene is no longer an imaginary entity. Recent discoveries in a number of bewildering traits, whose inheritance do not follow simple mendelian rules, have caused much amazement. For example, fragile X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy arise from "triples repeat mutation" and amplification in future generations. Genetic diseases which are inherited, can now be diagnosed prenatally; an idea that was once inconceivable. The aim of the second volume, entitled Morbid Anatomy of the Genome, is to reflect on the importance of molecular genetics in modern medicine. The field has expanded so as to warrant a volume dedicated exclusively toward understanding those who wish to know the cause, detection and in turn treatment of such diseases. In this volume, I have commissioned several scientists to contribute 12 chapters. A chapter describing a special role of molecular genetics in combating genetic diseases through gene therapy has also been included, while chapter 13 is a commentary. A complete account of all diseases whose genetic basis is well established would be a herculean task and is not within the scope of a single volume format. Therefore a few specific topics have been chosen which may be of the greatest interest to scientists and clinicians. The purpose of this issue is to keep abreast of the latest developments in a select group of genetic diseases.
Author : United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Oversight and Investigations
Publisher :
ISBN 13 :
Total Pages : 142 pages
Book Rating : 4.3/5 (91 download)
Download or read book OTA Report on the Human Genome Project written by United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Oversight and Investigations and published by . This book was released on 1988 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Adrian Spitzer
Publisher : Springer Science & Business Media
ISBN 13 : 1461316030
Total Pages : 453 pages
Book Rating : 4.4/5 (613 download)
Download or read book Inheritance of Kidney and Urinary Tract Diseases written by Adrian Spitzer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.
Author : Milo Keynes
Publisher : CRC Press
ISBN 13 : 0203392159
Total Pages : 170 pages
Book Rating : 4.2/5 (33 download)
Download or read book A Century of Mendelism in Human Genetics written by Milo Keynes and published by CRC Press. This book was released on 2004-03-15 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: In 1901 William Bateson, Professor of Biology at Cambridge, published a renewed version of a lecture which he had delivered the year before to the Royal Horticultural Society in London (reprinted in the book as an appendix). In this lecture he recognized the importance of the work completed by Gregor Mendel in 1865, and brought it to the notice of
Author : Krishna R. Dronamraju
Publisher : Springer Science & Business Media
ISBN 13 : 1461416779
Total Pages : 238 pages
Book Rating : 4.4/5 (614 download)
Download or read book Victor McKusick and the History of Medical Genetics written by Krishna R. Dronamraju and published by Springer Science & Business Media. This book was released on 2012-06-08 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.
Author : Peter S. Harper
Publisher : Oxford University Press
ISBN 13 : 0195187504
Total Pages : 570 pages
Book Rating : 4.1/5 (951 download)
Download or read book A Short History of Medical Genetics written by Peter S. Harper and published by Oxford University Press. This book was released on 2008 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.
Author : Andrew J. Hogan
Publisher : JHU Press
ISBN 13 : 1421420740
Total Pages : 279 pages
Book Rating : 4.4/5 (214 download)
Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by JHU Press. This book was released on 2016-11 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: A history of genetic testing warns that such tests may tell us more than we want to know. Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Author :
Publisher :
ISBN 13 :
Total Pages : 1516 pages
Book Rating : 4.3/5 (243 download)
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1994 with total page 1516 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : F. Farzaneh
Publisher : Garland Science
ISBN 13 : 1000140962
Total Pages : 314 pages
Book Rating : 4.0/5 (1 download)
Download or read book Functional Analysis of the Human Genome written by F. Farzaneh and published by Garland Science. This book was released on 2020-09-10 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: An excellent review of the relationship between structure and function in the human genome, and a detailed description of some of the important methodologies for unravelling the function of genes and genomic structures.
Author : David Neil Cooper
Publisher : Elsevier
ISBN 13 : 9780121878702
Total Pages : 520 pages
Book Rating : 4.8/5 (787 download)
Download or read book Human Gene Evolution written by David Neil Cooper and published by Elsevier. This book was released on 1999-11-03 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents the principles of human gene evolution in a concise and easy to understand fashion. Uses examples of how evolutionary processes have molded present day genes, drawn from the evolution of humans and other primates, as well as from more primitive organisms. With increasing attention in this expanding area, this review forms a timely publication of our current knowledge of this important field. Structure and function in the human genome The evolution of gene structure Mutational mechanisms in evolution
Author : Pauline Mazumdar
Publisher : Routledge
ISBN 13 : 1134950217
Total Pages : 346 pages
Book Rating : 4.1/5 (349 download)
Download or read book Eugenics, Human Genetics and Human Failings written by Pauline Mazumdar and published by Routledge. This book was released on 2005-12-20 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: This scholarly and penetrating study of eugenics is a major contribution to our understanding of the complex relation between science, ideology and class.
Author : Joanna Ebenstein
Publisher :
ISBN 13 : 9780989394307
Total Pages : 491 pages
Book Rating : 4.3/5 (943 download)
Download or read book The Morbid Anatomy Anthology written by Joanna Ebenstein and published by . This book was released on 2014 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents a eclectic collection of essays on death and the intersection of anatomy and medicine, including pieces on such topics as post-mortem photography, books bound in human skin, eroticized anatomical wax models, and taxidermied humans.
Author : John C. Avise
Publisher : Oxford University Press
ISBN 13 : 9780199741687
Total Pages : 240 pages
Book Rating : 4.7/5 (416 download)
Download or read book Inside the Human Genome written by John C. Avise and published by Oxford University Press. This book was released on 2010-02-12 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Humanity's physical design flaws have long been apparent--we get hemorrhoids and impacted wisdom teeth, for instance--but do the imperfections extend down to the level of our genes? Inside the Human Genome is the first book to examine the philosophical question of why, from the perspectives of biochemistry and molecular genetics, flaws exist in the biological world. Distinguished evolutionary geneticist John Avise offers a panoramic yet penetrating exploration of the many gross deficiencies in human DNA--ranging from mutational defects to built-in design faults--while at the same time offering a comprehensive treatment of recent findings about the human genome. The author shows that the overwhelming scientific evidence for genomic imperfection provides a compelling counterargument to intelligent design. He also develops a case that theologians should welcome rather than disavow these discoveries. The evolutionary sciences can help mainstream religions escape the shackles of Intelligent Design, and thereby return religion to its rightful realm--not as the secular interpreter of the biological minutiae of our physical existence, but rather as a respectable philosophical counselor on grander matters of ultimate concern.
Author : Georgina M. Montgomery
Publisher : John Wiley & Sons
ISBN 13 : 1405156252
Total Pages : 710 pages
Book Rating : 4.4/5 (51 download)
Download or read book A Companion to the History of American Science written by Georgina M. Montgomery and published by John Wiley & Sons. This book was released on 2015-12-14 with total page 710 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Companion to the History of American Science offers a collection of essays that give an authoritative overview of the most recent scholarship on the history of American science. Covers topics including astronomy, agriculture, chemistry, eugenics, Big Science, military technology, and more Features contributions by the most accomplished scholars in the field of science history Covers pivotal events in U.S. history that shaped the development of science and science policy such as WWII, the Cold War, and the Women’s Rights movement
Author : Harry Harris
Publisher : Springer Science & Business Media
ISBN 13 : 1475790627
Total Pages : 283 pages
Book Rating : 4.4/5 (757 download)
Download or read book Advances in Human Genetics written by Harry Harris and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
Author : Peter D Turnpenny
Publisher : Elsevier Health Sciences
ISBN 13 : 0702045055
Total Pages : 465 pages
Book Rating : 4.7/5 (2 download)
Download or read book Emery's Elements of Medical Genetics E-Book written by Peter D Turnpenny and published by Elsevier Health Sciences. This book was released on 2011-03-04 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.
