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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis, Herman E. Wyandt; Golder N. Wilson; Vijay S. Tonk


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Автор: Herman E. Wyandt; Golder N. Wilson; Vijay S. Tonk
Название:  Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis
ISBN: 9789811097706
Издательство: Springer
Классификация:

ISBN-10: 9811097704
Обложка/Формат: Soft cover
Страницы: 490
Вес: 1.04 кг.
Дата издания: 2017
Язык: English
Издание: Softcover reprint of
Иллюстрации: 40 tables, color; 29 illustrations, color; 58 illustrations, black and white; xx, 490 p. 87 illus., 29 illus. in color.
Размер: 235 x 155
Читательская аудитория: Professional & vocational
Основная тема: Biomedicine
Ссылка на Издательство: Link
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Поставляется из: Германии
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.
Дополнительное описание: Introduction.- Chromosome Heteromorphism.- Frequencies of Heteromorphisms.- Clinical Populations.- Euchromatic Variants.- Chromosome Heteromorphism (Summaries)- Fragile Sites.- Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH).- Ar



Human Chromosome Variation: Heteromorphism and Polymorphism

Автор: Wyandt
Название: Human Chromosome Variation: Heteromorphism and Polymorphism
ISBN: 9400708955 ISBN-13(EAN): 9789400708952
Издательство: Springer
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Цена: 23508.00 р.
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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.

Atlas of Human Chromosome Heteromorphisms

Автор: Wyandt Herman E., Tonk Vijay S.
Название: Atlas of Human Chromosome Heteromorphisms
ISBN: 1402013035 ISBN-13(EAN): 9781402013034
Издательство: Springer
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Цена: 32142.00 р.
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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.

Emerging and Evolving Topics in Multiple Sclerosis Pathogenesis and Treatments

Автор: Anne C. La Flamme; Jacqueline Monique Orian
Название: Emerging and Evolving Topics in Multiple Sclerosis Pathogenesis and Treatments
ISBN: 331925541X ISBN-13(EAN): 9783319255415
Издательство: Springer
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Цена: 19564.00 р.
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Описание: Over the past decade, we have made great advances in the field of multiple sclerosis (MS) research, and this book focuses on those advances in MS pathogenesis and treatment. While some of these advances have been through new approaches and ideas that have emerged in the last decade such as the newly identified protective role that amyloid proteins may play in MS or the use of helminths to treat autoimmune diseases, others have evolved from previous theories and ideas that have only now gained momentum and a deeper understanding such as the role of HLA or gender in MS susceptibility. This book covers these emerging and evolving topics and highlights the substantial advancements made in elucidation of the factors regulating susceptibility or disease progression, identification of new ways to monitor or predict MS pathology, and development of new strategies for treating MS.

Gardner and Sutherland`s chromosome abnormalities and genetic counseling

Автор: Gardner, R.j. Mckinlay (adjunct Professor, Clinica
Название: Gardner and Sutherland`s chromosome abnormalities and genetic counseling
ISBN: 0199329001 ISBN-13(EAN): 9780199329007
Издательство: Oxford Academ
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Цена: 18612.00 р.
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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.

Infection, Polymorphism and Evolution

Автор: W.D. Hamilton; J.C. Howard
Название: Infection, Polymorphism and Evolution
ISBN: 9401065233 ISBN-13(EAN): 9789401065238
Издательство: Springer
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Цена: 12157.00 р.
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Описание: Resulting from a Royal Society discussion meeting, this volume presents a short review of the topic of parasite-host co-evolution. Current thinking on evolution in parasites, viruses and other pathogens is discussed.

Pathogenesis of Functional Bowel Disease

Автор: William J. Snape Jr.
Название: Pathogenesis of Functional Bowel Disease
ISBN: 1468456962 ISBN-13(EAN): 9781468456967
Издательство: Springer
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Цена: 6986.00 р.
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Описание: In their second year in medical school, students begin to learn about the differences between "disease" and "illness." There is, alas, little mention of functional bowel disease or of the irritable or spastic colon, for that is not easy to show on hard copy.

Caveolins in Cancer Pathogenesis, Prevention and Therapy

Автор: Isabelle Mercier; Jean-Fran?ois Jasmin; Michael P.
Название: Caveolins in Cancer Pathogenesis, Prevention and Therapy
ISBN: 1493901346 ISBN-13(EAN): 9781493901340
Издательство: Springer
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Цена: 23058.00 р.
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Описание: Caveolins play an important role in the pathogenesis of multiple cancers. This volume focuses mainly on the importance of Caveolin-1 in breast, prostate, lung, skin, colon, pancreatic and brain cancers. It also studies the role of Caveolin-3 in breast cancer.

Autoimmunity and the Pathogenesis of Diabetes

Автор: Fredda Ginsberg-Fellner; Robert C. McEvoy
Название: Autoimmunity and the Pathogenesis of Diabetes
ISBN: 1461279208 ISBN-13(EAN): 9781461279204
Издательство: Springer
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Цена: 16769.00 р.
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Описание: . . . . . . . . . . . . . . ... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Xl . . . . . . . . . . . . . The Autoimmune Hypothesis of Insulin-Dependent Diabetes: 1965 to the Present . . . . . . . . . . . . . . . .

Signaling Pathways in Cancer Pathogenesis and Therapy

Автор: David A. Frank
Название: Signaling Pathways in Cancer Pathogenesis and Therapy
ISBN: 1489992227 ISBN-13(EAN): 9781489992222
Издательство: Springer
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Цена: 16977.00 р.
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Описание: This book describes research suggesting that abnormal activation of signaling pathways is a critical event in cancer pathogenesis, and describes the emerging ability to design small molecules, protein therapeutics, and other forms of targeted cancer therapies.

Emerging and Evolving Topics in Multiple Sclerosis Pathogenesis and Treatments

Автор: Anne C. La Flamme; Jacqueline Monique Orian
Название: Emerging and Evolving Topics in Multiple Sclerosis Pathogenesis and Treatments
ISBN: 3319348469 ISBN-13(EAN): 9783319348469
Издательство: Springer
Рейтинг:
Цена: 16977.00 р.
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Описание: Over the past decade, we have made great advances in the field of multiple sclerosis (MS) research, and this book focuses on those advances in MS pathogenesis and treatment.

Methods for studying the genetics, molecular biology, physiology, and pathogenesis of the streptococci

Автор: Paula M. Fives-Taylor; Donald J. LeBlanc
Название: Methods for studying the genetics, molecular biology, physiology, and pathogenesis of the streptococci
ISBN: 9048152623 ISBN-13(EAN): 9789048152629
Издательство: Springer
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Цена: 26552.00 р.
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Microbial Surface Components and Toxins in Relation to Pathogenesis

Автор: Eliora Z. Ron; Shlomo Rottem
Название: Microbial Surface Components and Toxins in Relation to Pathogenesis
ISBN: 1468489976 ISBN-13(EAN): 9781468489972
Издательство: Springer
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Цена: 6986.00 р.
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Описание: Proceedings of a symposium held under the auspices of the Federation of European Microbiological Societies, at Ramat Rachel, Israel, May 15-19, 1989.


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