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: 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: 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: 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.
Описание: 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.
Автор: Kurt Benirschke; Tao C. Hsu; M.L. Becak; W. Becak; Название: Chromosome Atlas: Fish, Amphibians, Reptiles, and Birds ISBN: 3642490905 ISBN-13(EAN): 9783642490903 Издательство: Springer Рейтинг: Цена: 13974.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Since the publication of the first Atlas of Mammalian Chromosomes in 1967 the continuous compilation of mammalian karyotypes has become a useful instrument in cytologic and taxonomic studies. In general the karyotypes are laid out following the format employed in An Atlas of Mammalian Chromosomes.
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: 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.
Автор: Kenneth W. Adolph Название: Molecular Biology of Chromosome Function ISBN: 146128192X ISBN-13(EAN): 9781461281924 Издательство: Springer Рейтинг: Цена: 14673.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Chromosomes have structure, determined by the interactions of proteins with DNA, and chromosomes have functions, in particular, replication of DNA and transcription of messenger RNA.
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: 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: 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.
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