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Author : Jean de Grouchy
Publisher : John Wiley & Sons
ISBN 13 :
Total Pages : 520 pages
Book Rating : 4.3/5 (91 download)
Download or read book Clinical Atlas of Human Chromosomes written by Jean de Grouchy and published by John Wiley & Sons. This book was released on 1984 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Claudia Behrend
Publisher : Springer
ISBN 13 : 3319540998
Total Pages : 210 pages
Book Rating : 4.3/5 (195 download)
Download or read book Human Chromosome Atlas written by Claudia Behrend and published by Springer. This book was released on 2017-07-06 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Author : H.E. Wyandt
Publisher : Springer Science & Business Media
ISBN 13 : 9401704333
Total Pages : 279 pages
Book Rating : 4.4/5 (17 download)
Download or read book Atlas of Human Chromosome Heteromorphisms written by H.E. Wyandt and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
Author : Herman E. Wyandt
Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 490 pages
Book Rating : 4.8/5 (11 download)
Download or read book Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309038405
Total Pages : 128 pages
Book Rating : 4.3/5 (9 download)
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Author : Eeva Therman
Publisher : Springer Science & Business Media
ISBN 13 : 1468405292
Total Pages : 392 pages
Book Rating : 4.4/5 (684 download)
Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, like the two previous editions, was written as an introduction to human cytogenetics, but it could also be used as a text for a general cytogenetics course, since chromosome structure and behavior are similar in all eukaryotes. Many examples in this book are from organisms other than humans, reflecting our combined backgrounds of molecular and bacterial genetics, and plant and animal cytogenetics. In the rapidly expanding field of human cytogenetics, certain subjects, for instance clinical and cancer cytogenetics, are now covered in recently published, thousand-page volumes. In this book, such subjects are presented only in outline. The enormous growth of information has also made the choice of topics and of examples to illustrate them even more arbitrary and subjective than in the previous editions. Apart from a few pages here and there, the text has been rewritten. Major parts, especially those on molecular matters, have been added. This book would not exist without the dedicated participation of Mrs. Barbara Susman. She has been involved in the project from the planning stages to the final proofreading. She has done the extensive literature research, designed most of the tables and illustrations, and edited and typed the text. For discussions and suggestions we are indebted to many colleagues. We wish especially to mention Drs. Lassi Alvesalo, Evelyn M. Kuhn, and Renata Laxova, who have critically read selected parts of the book, and Dr. Carter Denniston, who has read the whole text.
Author : Peter S. Harper
Publisher : CRC Press
ISBN 13 : 1000693260
Total Pages : 362 pages
Book Rating : 4.0/5 (6 download)
Download or read book The Evolution of Medical Genetics written by Peter S. Harper and published by CRC Press. This book was released on 2019-10-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author’s personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.
Author :
Publisher :
ISBN 13 :
Total Pages : 238 pages
Book Rating : 4.:/5 (3 download)
Download or read book Human Genetics, Informational and Educational Materials written by and published by . This book was released on 1979 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: Printed and audiovisual educational and informational materials dealing with human genetics and genetic diseases. Intended for interested laypersons and professionals. Arranged by titles according to format of books, journal articles, videocassettes, film loops, slide/tape lectures, slide sets, posters and charts, motion pictures, laboratory/teaching kits, games, filmstrips, and audiocassettes. Subject heading index. List of publishers, organizations, and producers.
Author : Peter S. Harper
Publisher : Oxford University Press
ISBN 13 : 0199720134
Total Pages : 576 pages
Book Rating : 4.1/5 (997 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 2008-10-24 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.
Author : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Author : Thomas D. Gelehrter
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780683034455
Total Pages : 444 pages
Book Rating : 4.0/5 (344 download)
Download or read book Principles of Medical Genetics written by Thomas D. Gelehrter and published by Lippincott Williams & Wilkins. This book was released on 1998 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Herman E. Wyandt
Publisher : Springer Science & Business Media
ISBN 13 : 9400708963
Total Pages : 216 pages
Book Rating : 4.4/5 (7 download)
Download or read book Human Chromosome Variation: Heteromorphism and Polymorphism written by Herman E. Wyandt and published by Springer Science & Business Media. This book was released on 2011-08-20 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.
Author : Richard A. McPherson
Publisher : Elsevier Health Sciences
ISBN 13 : 0323413153
Total Pages : 1823 pages
Book Rating : 4.3/5 (234 download)
Download or read book Henry's Clinical Diagnosis and Management by Laboratory Methods E-Book written by Richard A. McPherson and published by Elsevier Health Sciences. This book was released on 2017-04-05 with total page 1823 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in laboratory medicine since 1908, Henry's Clinical Diagnosis continues to offer state-of-the-art guidance on the scientific foundation and clinical application of today's complete range of laboratory tests. Employing a multidisciplinary approach, it presents the newest information available in the field, including new developments in technologies and the automation platforms on which measurements are performed. Provides guidance on error detection, correction, and prevention, as well as cost-effective test selection. Features a full-color layout, illustrations and visual aids, and an organization based on organ system. Features the latest knowledge on cutting-edge technologies of molecular diagnostics and proteomics. Includes a wealth of information on the exciting subject of omics; these extraordinarily complex measurements reflect important changes in the body and have the potential to predict the onset of diseases such as diabetes mellitus. Coverage of today's hottest topics includes advances in transfusion medicine and organ transplantation; molecular diagnostics in microbiology and infectious diseases; point-of-care testing; pharmacogenomics; and the microbiome. Toxicology and Therapeutic Drug Monitoring chapter discusses the necessity of testing for therapeutic drugs that are more frequently being abused by users.
Author : John D. Pfeifer
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781747486
Total Pages : 530 pages
Book Rating : 4.7/5 (474 download)
Download or read book Molecular Genetic Testing in Surgical Pathology written by John D. Pfeifer and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters, organized by organ system, detail the specific applications of these tests in surgical pathology. More than 150 full-color and black-and-white illustrations complement the text.
Author : Adolfo Cassan
Publisher : Barrons Educational Series
ISBN 13 : 9780764160912
Total Pages : 0 pages
Book Rating : 4.1/5 (69 download)
Download or read book Atlas of the Human Body written by Adolfo Cassan and published by Barrons Educational Series. This book was released on 2008-10-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here’s a fine general reference volume that will be equally at home on the family bookshelf and in school libraries. Scientifically accurate full-color illustrations on virtually every page show the human body and all its parts. A clear, concise text avoids technical medical jargon as it explains body organs and their functions. A brief layman’s introduction to anatomy and physiology is followed by 19 fully illustrated sections: • Cells, Chromosomes, and Genes • The Body’s Main Parts • The Skeleton, Bones, and Muscles • Blood and its Functions • The Circulatory System • The Respiratory System • The Digestive System • Nutrition • Vision • Hearing • The Sense of Touch • The Senses of Smell and Taste • The Nervous System and the Brain • The Urinary System • The Reproductive Systems (Male & Female) • Sexuality • Human Reproduction • The Endocrine System • The Immunological System All illustrations are clearly labeled and captioned. Supplementary information advises on treatments for common injuries including broken bones, explains the meaning of blood types, gives nutritional values of various foods, and more.
Author : Steven L. Gersen
Publisher : Springer Science & Business Media
ISBN 13 : 1592598331
Total Pages : 589 pages
Book Rating : 4.5/5 (925 download)
Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer Science & Business Media. This book was released on 2008-08-17 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.
Author : Ronald W. Dudek
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781757263
Total Pages : 308 pages
Book Rating : 4.7/5 (572 download)
Download or read book Embryology written by Ronald W. Dudek and published by Lippincott Williams & Wilkins. This book was released on 2005 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: BRS Embryology embodies the popular BRS format of succinct outline review of content followed by USMLE-style questions with explanations. The overall content and questions have been updated to reflect the evolving nature of the USMLE.
