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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 : 314 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 314 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 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 : Herman E. Wyandt
Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 500 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 500 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 : Eberhard Passarge
Publisher : Thieme
ISBN 13 : 3132414417
Total Pages : 476 pages
Book Rating : 4.1/5 (324 download)
Download or read book Color Atlas of Genetics written by Eberhard Passarge and published by Thieme. This book was released on 2017-12-12 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
Author : John L. Hamerton
Publisher : Academic Press
ISBN 13 : 1483266958
Total Pages : 564 pages
Book Rating : 4.4/5 (832 download)
Download or read book Human Cytogenetics written by John L. Hamerton and published by Academic Press. This book was released on 2013-10-22 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.
Author : Tao C. Hsu
Publisher : Springer Science & Business Media
ISBN 13 : 1461564220
Total Pages : 118 pages
Book Rating : 4.4/5 (615 download)
Download or read book An Atlas of Mammalian Chromosomes written by Tao C. Hsu and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, because of advances in karyological techniques, we have witnessed a remarkable renewal of interest in studies of mammalian chromosomes. These techniques, generally involving the use of tissue culture, colchicine and hypotonic solution pretreatments, allow for a much clearer display of metaphase chromosomes of mammalian cells than the classic direct squash or tissue section methods. Consequently, what was known about the chromosome complement of most mammals must be revised. The most astonishing revision, of course, was that made by Tjio and Levan in 1956, who demonstrated that the diploid number of man is 46, not 48 as previously believed. Similar revisions will have to be made for many other mammalian species, either in number or in karyotype structure. Many animals are being examined cytologically for the first time. The findings are now extensive and scattered; they appear in numer ous periodicals and newsletters, or they are kept in cytologists' file drawers without being published. It is difficult to have access to perti nent data for comparison among related species or for evaluation of various karyological characteristics within a karyotype. Such evaluations can be done only when reasonably uniform material is collected and placed side by side for comparison, accompanied by relative references. We considered that probably an Atlas of Mammalian Chromosomes would fulfill such a need. Needless to say, it is impossible to present karyotypes of all mam malian species at one time.
Author : Michael Baraitser
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (488 download)
Download or read book A colour atlas of clinical genetics written by Michael Baraitser and published by . This book was released on 1988 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Berta-Margareta Uebele-Kallhardt
Publisher : Springer Science & Business Media
ISBN 13 : 9783540088790
Total Pages : 106 pages
Book Rating : 4.0/5 (887 download)
Download or read book Human Oocytes and Their Chromosomes written by Berta-Margareta Uebele-Kallhardt and published by Springer Science & Business Media. This book was released on 1978 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last decade has seen remarkable advances in human ge netics. Once the correct chromosome number of the human genome was ascertained, a wide variety of diseases was rec ognized as due to numerical chromosome anomalies. There followed the discovery that spontaneous abortions are the result of chromosome errors, and specific band patterns of chromosomes allowed identification of minute lesions. The techniques of cell hybridization now allow specific gene assign ment to chromosomes and even to distinct loci on their arms. All this was possible because of the ease with which metaphase chromosomes can be obtained and manipulated. The much older technique of analysis of meiotic chromosomes has taken a back seat in this exciting era. Being much less readily accessi ble, spermatogonial analysis is much less frequently under taken and is less successful. Even more difficult for study is the female meiotic process. Not only is meiosis extraordinar ily long, spanning from before birth to ovulation, the tech niques for its study and the patience required for detailed inquiry have been significant obstacles. At the same time, the suspicion that female meiotic analysis should not only be rewarding but that it may be mandatory has been with us ever since it was recognized that a positive correlation exists between chromosomal nondisjunction and maternal age. Before the intricacies of chromosomal behavior that are re sponsible for nondisjunction are understood, however, it is necessary that we comprehend the normalcy of the process.
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 : Marilyn S. Arsham
Publisher : John Wiley & Sons
ISBN 13 : 1119061229
Total Pages : 1216 pages
Book Rating : 4.1/5 (19 download)
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
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 : National Library of Medicine (U.S.)
Publisher :
ISBN 13 :
Total Pages : 1728 pages
Book Rating : 4.3/5 (91 download)
Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on with total page 1728 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.
Author : Ernest W. Beck
Publisher :
ISBN 13 :
Total Pages : 340 pages
Book Rating : 4.3/5 (91 download)
Download or read book Mosby's Atlas of Functional Human Anatomy written by Ernest W. Beck and published by . This book was released on 1982 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This atlas is for students and practitioners in many health and life science fields. It makes no pretense of being complete; what is of interest and importance to one specialty may only be of passing curiosity to another, The subject matter of each plate has been carefully considered for its usefulness as standard reference material for the understanding of human anatomym physiological principles, and frequntlyu encountered pathological conditions" (from Preface).
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 : R.J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
