Genomic Disorders

The Genomic Basis of Disease

Editors: Lupski, James R., Stankiewicz, Pawel T. (Eds.)

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  • ISBN 978-1-59745-039-3
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Hardcover $219.99
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  • ISBN 978-1-61737-642-9
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About this book

It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders.

Reviews

"...an attempt to bridge the gap between genomic technology and clinical applications of genomic knowledge." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars

"...a unique contribution in a very specialized field." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars


Table of contents (27 chapters)

Table of contents (27 chapters)
  • The CMT1A Duplication

    Lupski, James R., MD, PhD (et al.)

    Pages 3-17

  • Alu Elements

    Deininger, Prescott, PhD

    Pages 21-34

  • The Impact of LINE-1 Retro transposition on the Human Genome

    Hulme, Amy E., BS, MS (et al.)

    Pages 35-55

  • Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses

    Pavlicek, Adam, PhD (et al.)

    Pages 57-72

  • Segmental Duplications

    Sharp, Andrew J., PhD (et al.)

    Pages 73-88

Buy this book

eBook $169.00
price for USA in USD (gross)
  • ISBN 978-1-59745-039-3
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $219.99
price for USA in USD
  • ISBN 978-1-58829-559-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $219.99
price for USA in USD
  • ISBN 978-1-61737-642-9
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Genomic Disorders
Book Subtitle
The Genomic Basis of Disease
Editors
  • James R. Lupski
  • Pawel T. Stankiewicz
Copyright
2006
Publisher
Humana Press
Copyright Holder
Humana Press
eBook ISBN
978-1-59745-039-3
DOI
10.1007/978-1-59745-039-3
Hardcover ISBN
978-1-58829-559-0
Softcover ISBN
978-1-61737-642-9
Edition Number
1
Number of Pages
XVIII, 426
Number of Illustrations
111 b/w illustrations, 1 illustrations in colour
Topics