Chromosomal Alterations, G?nter Obe; Adayapalam T. Natarajan

Автор: S. Zneimer
Название: Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result
ISBN: 1118912497 ISBN-13(EAN): 9781118912492
Издательство: Wiley
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Цена: 17733.00 р.
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Описание: This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports.

Автор: G. Shashidhar Pai
Название: Handbook of Chromosomal Syndromes
ISBN: 047137217X ISBN-13(EAN): 9780471372172
Издательство: Wiley
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Цена: 26762.00 р.
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Описание: This comprehensive reference provides a pictorial and descriptive account of approximately 200 chromosomal aneuploidy syndromes. It focuses exclusively on clinical syndromes due to chromosomal abnormalities.

Автор: Thomas Liehr
Название: Benign & Pathological Chromosomal Imbalances,
ISBN: 0124046312 ISBN-13(EAN): 9780124046313
Издательство: Elsevier Science
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Цена: 11620.00 р.
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Описание: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. . As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.

Автор: Janet D. Rowley; Michelle M. Le Beau; Terence H. R
Название: Chromosomal Translocations and Genome Rearrangements in Cancer
ISBN: 331919982X ISBN-13(EAN): 9783319199825
Издательство: Springer
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Цена: 25155.00 р.
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Автор: Matja? Vogelsang
Название: DNA Alterations in Lynch Syndrome
ISBN: 9400765967 ISBN-13(EAN): 9789400765962
Издательство: Springer
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Цена: 20896.00 р.
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Описание: This book surveys the genetic and epigenetic basis of Lynch syndrome, evaluating its clinical features and analyzing molecular tools for identifying mutations responsible for the syndrome; includes functional assays for assessing identified mutations.