2006

Genomic Disorders

The Genomic Basis of Disease

Editors:

ISBN: 978-1-58829-559-0 (Print) 978-1-59745-039-3 (Online)

Table of contents (27 chapters)

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  1. Front Matter

    Pages i-xvii

  2. Introduction

    1. Front Matter

      Pages 1-1

    2. No Access

      Book Chapter

      Pages 3-17

      The CMT1A Duplication

  3. Genomic Structure

    1. Front Matter

      Pages 19-19

    2. No Access

      Book Chapter

      Pages 21-34

      Alu Elements

    3. No Access

      Book Chapter

      Pages 35-55

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

    4. No Access

      Book Chapter

      Pages 57-72

      Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses

    5. No Access

      Book Chapter

      Pages 73-88

      Segmental Duplications

    6. No Access

      Book Chapter

      Pages 89-99

      Non-B DNA and Chromosomal Rearrangements

    7. No Access

      Book Chapter

      Pages 101-113

      Genetic Basis of Olfactory Deficits

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      Book Chapter

      Pages 115-129

      Genomic Organization and Function of Human Centromeres

  4. Genome Evolution

    1. Front Matter

      Pages 131-131

    2. No Access

      Book Chapter

      Pages 133-152

      Primate Chromosome Evolution

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      Book Chapter

      Pages 153-165

      Genome Plasticity in Evolution

  5. Genomic Rearrangements and Disease Traits

    1. Front Matter

      Pages 167-167

    2. No Access

      Book Chapter

      Pages 169-178

      The CMT1A Duplication and HNPP Deletion

    3. No Access

      Book Chapter

      Pages 179-191

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

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      Book Chapter

      Pages 193-206

      Chromosome 22q11.2 Rearrangement Disorders

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      Book Chapter

      Pages 207-219

      Neurofibromatosis 1

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      Book Chapter

      Pages 221-236

      Williams-Beuren Syndrome

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      Book Chapter

      Pages 237-246

      Sotos Syndrome

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      Book Chapter

      Pages 247-262

      X Chromosome Rearrangements

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      Book Chapter

      Pages 263-272

      Pelizaeus–Merzbacher Disease and Spastic Paraplegia Type 2

    10. No Access

      Book Chapter

      Pages 273-288

      Y-Chromosomal Rearrangements and Azoospermia

    11. No Access

      Book Chapter

      Pages 289-299

      Inversion Chromosomes

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