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Genomic Disorders

The Genomic Basis of Disease

  • Book
  • © 2006

Overview

Editors:
  1. James R. Lupski

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston

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    You can also search for this editor in PubMed   Google Scholar

  2. Pawel Stankiewicz

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

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Table of contents (27 chapters)

  1. Front Matter

    Pages i-xvii
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  2. Introduction

    1. Front Matter

      Pages 1-1
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    2. The CMT1A Duplication

      • James R. Lupski, Vincent Timmerman
      Pages 3-17

  3. Genomic Structure

    1. Front Matter

      Pages 19-19
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    2. Alu Elements

      • Prescott Deininger
      Pages 21-34

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

      • Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, John V. Moran
      Pages 35-55

    4. Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses

      • Adam Pavlicek, Jerzy Jurka
      Pages 57-72

    5. Segmental Duplications

      • Andrew J. Sharp, Evan E. Eichler
      Pages 73-88

    6. Non-B DNA and Chromosomal Rearrangements

      • Albino Bacolla, Robert D. Wells
      Pages 89-99

    7. Genetic Basis of Olfactory Deficits

      • Idan Menashe, Ester Feldmesser, Doron Lancet
      Pages 101-113

    8. Genomic Organization and Function of Human Centromeres

      • Huntington E Willard, M. Katharine Rudd
      Pages 115-129

  4. Genome Evolution

    1. Front Matter

      Pages 131-131
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    2. Primate Chromosome Evolution

      • Stefan Müller
      Pages 133-152

    3. Genome Plasticity in Evolution

      • Mariano Rocchi, Nicoletta Archidiacono
      Pages 153-165

  5. Genomic Rearrangements and Disease Traits

    1. Front Matter

      Pages 167-167
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    2. The CMT1A Duplication and HNPP Deletion

      • Vincent Timmerman, James R. Lupski
      Pages 169-178

    3. Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements

      • Pawel Stankiewicz, Weimin Bi, James R. Lupski
      Pages 179-191

    4. Chromosome 22q11.2 Rearrangement Disorders

      • Bernice E. Morrow
      Pages 193-206

    5. Neurofibromatosis 1

      • Karen Stephens
      Pages 207-219

    6. Williams-Beuren Syndrome

      • Stephen W. Scherer, Lucy R. Osborne
      Pages 221-236
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Keywords

About this book

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to 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.

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

Editors and Affiliations

  • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston

    James R. Lupski, Pawel Stankiewicz

Bibliographic Information

  • Book Title: Genomic Disorders

  • Book Subtitle: The Genomic Basis of Disease

  • Editors: James R. Lupski, Pawel Stankiewicz

  • DOI: https://doi.org/10.1007/978-1-59745-039-3

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Humana Press 2006

  • Hardcover ISBN: 978-1-58829-559-0Published: 15 April 2006

  • Softcover ISBN: 978-1-61737-642-9Published: 09 December 2010

  • eBook ISBN: 978-1-59745-039-3Published: 10 November 2007

  • Edition Number: 1

  • Number of Pages: XVIII, 426

  • Number of Illustrations: 111 b/w illustrations, 1 illustrations in colour

  • Topics: Pathology

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