Описание: 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.
Автор: MCKinlay Gardner, R.J.; Sutherland, Grant R; Shaffe Название: Chromosome Abnormalities and Genetic Counseling (Hardback) ISBN: 0195375335 ISBN-13(EAN): 9780195375336 Издательство: Oxford Academ Рейтинг: Цена: 8237.00 р. Наличие на складе: Поставка под заказ.
Описание: 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.
Автор: Wyandt Herman E., Tonk Vijay S. Название: Atlas of Human Chromosome Heteromorphisms ISBN: 1402013035 ISBN-13(EAN): 9781402013034 Издательство: Springer Рейтинг: Цена: 32142.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: 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.
Автор: Rudi Appels; J. Perry Gustafson Название: Chromosome Structure and Function ISBN: 1461283043 ISBN-13(EAN): 9781461283041 Издательство: Springer Рейтинг: Цена: 16979.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: A Historical Perspective on the Study of Chromosome Structure and Function R. Stadler (1954) The very strong influence of reductionism in the history of understanding chromosome structure and function is evident in the above quotation from Stadler`s 1954 paper, "The gene".
Описание: 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.
Автор: Leake Название: Chromosome Architecture ISBN: 1493936298 ISBN-13(EAN): 9781493936298 Издательство: Springer Рейтинг: Цена: 19564.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This volume details a valuable collection of protocols andreviews, such as emerging experimental and theoretical approaches. Theseapproaches have resulted in a substantial improvement in the understanding ofchromosome architecture. Chromosome Architecture:Methods and Protocols guides readers through cutting-edge interdisciplinarymethods which allow for an understanding of architecture of chromosomes withexceptionally enhanced resolution, both in terms of space and time. Written in the highly successful Methods inMolecular Biology series format, chapters include introductions to theirrespective topics, lists of the necessary materials and reagents, step-by-step,readily reproducible laboratory protocols, and tips on troubleshooting andavoiding known pitfalls.Authoritativeand cutting-edge, ChromosomeArchitecture: Methods and Protocols aims to ensure successful results in thefurther study of this vital field.
Автор: Henry F. Epstein Название: Genetic Analysis of the X Chromosome ISBN: 1468443488 ISBN-13(EAN): 9781468443486 Издательство: Springer Рейтинг: Цена: 15672.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The present volume contains the edited transcript of a collo- quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981.
Автор: Arun Kumar Sharma; Archana Sharma Название: Chromosome Painting ISBN: 9401038406 ISBN-13(EAN): 9789401038409 Издательство: Springer Рейтинг: Цена: 16979.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Chromosome Painting is the most modern and novel technique for directly identifying several gene sequences simultaneously in the chromosome, with the aid of specific probes in molecular hybridization.
Автор: Tikaram Sharma Название: Trends in Chromosome Research ISBN: 366210623X ISBN-13(EAN): 9783662106235 Издательство: Springer Рейтинг: Цена: 16979.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Application of various molecular meiosis and the next to molecular events in techniques in chromosome research has subse- meiotic prophase in the baker`s yeast.
Автор: J?rn Bullerdiek; H. Van den Berghe; Sabine Bartnit Название: Chromosome 12 Aberrations in Human Solid Tumors ISBN: 3662062577 ISBN-13(EAN): 9783662062579 Издательство: Springer Рейтинг: Цена: 16979.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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