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: Baldev K. Vig Название: Chromosome Segregation and Aneuploidy ISBN: 3642849407 ISBN-13(EAN): 9783642849404 Издательство: Springer Рейтинг: Цена: 18167.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Proceedings of the NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy, held at Aghia Pelagia, Greece, October 10-15, 1992
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: 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: Takashi Sado Название: X-Chromosome Inactivation ISBN: 1493987658 ISBN-13(EAN): 9781493987658 Издательство: Springer Рейтинг: Цена: 15372.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This book details recently developed technologies and conventionally employed cytological proceduresfor the study of X-Chromosome Inactivation. Chapters detail live imaging, bioinformatic methods, fluorescence in situ hybridization, and immunofluorescence, and procedures to optimize the study of molecular mechanism underlying X chromosome inactivation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.Authoritative and cutting-edge, X-Chromosome Inactivation: Methods Protocols aims to be useful for researchers in the field of epigenetics, chromatin, noncoding RNA, and nuclear architecture.
Автор: Zhang Название: Chromosome Translocation ISBN: 9811305927 ISBN-13(EAN): 9789811305924 Издательство: Springer Рейтинг: Цена: 18167.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases. The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation. It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.
Автор: Gyula Hadlaczky Название: Mammalian Chromosome Engineering ISBN: 1493957759 ISBN-13(EAN): 9781493957750 Издательство: Springer Рейтинг: Цена: 16769.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The rapid progression of genetics and molecular biology has turned chromosomal engineering from science fiction to reality, with the successful production of transgenic animals with engineered chromosomes and chromosomes developed for pharmaceutical protein production which are now ready for the medical industry.
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: Claudia Behrend; Javad Karimzad Hagh; Parvin Mehdi Название: Human Chromosome Atlas ISBN: 3319853171 ISBN-13(EAN): 9783319853178 Издательство: Springer Рейтинг: Цена: 23058.00 р. Наличие на складе: Поставка под заказ.
Описание: 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.
Автор: Frank J. III Rauscher; Peter K. Vogt Название: Chromosomal Translocations and Oncogenic Transcription Factors ISBN: 3642644244 ISBN-13(EAN): 9783642644245 Издательство: Springer Рейтинг: Цена: 18167.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Regulation of gene expression at the level of transcription is one of the major determinants of proper cellular proliferation and differentiation. This volume gives insights into how normal programs of gene expression can be subverted by the action of single transcription factors resulting in a specific tumor type.
Автор: Sharma, Archarna Название: Chromosome Techniques ISBN: 0367449471 ISBN-13(EAN): 9780367449476 Издательство: Taylor&Francis Рейтинг: Цена: 9492.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This laboratory manual covers the study of chromosomes in plants, animal and human systems, dealing with the protocols and principles involved. It caters to the requirements of scientists working laboratories, presenting details of the operational mechanism for use at the chromosome level.
Автор: Kurt Benirschke; Tao C. Hsu; M.L. Becak; W. Becak; Название: Chromosome Atlas: Fish, Amphibians, Reptiles and Birds ISBN: 3642490913 ISBN-13(EAN): 9783642490910 Издательство: Springer Рейтинг: Цена: 12157.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
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