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Genomic Disorders The Genomic Basis of Disease /

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...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Lupski, James R. (Editor, http://id.loc.gov/vocabulary/relators/edt), Stankiewicz, Pawel T. (Editor, http://id.loc.gov/vocabulary/relators/edt)
Format: Electronic eBook
Language:English
Published: Totowa, NJ : Humana Press : Imprint: Humana, 2006.
Edition:1st ed. 2006.
Subjects:
Pathology.
Online Access:https://doi.org/10.1007/978-1-59745-039-3
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Table of Contents:
  • The CMT1A Duplication
  • Genomic Structure
  • Alu Elements
  • The Impact of LINE-1 Retro transposition on the Human Genome
  • Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses
  • Segmental Duplications
  • Non-B DNA and Chromosomal Rearrangements
  • Genetic Basis of Olfactory Deficits
  • Genomic Organization and Function of Human Centromeres
  • Genome Evolution
  • Primate Chromosome Evolution
  • Genome Plasticity in Evolution
  • Genomic Rearrangements and Disease Traits
  • The CMT1A Duplication and HNPP Deletion
  • Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements
  • Chromosome 22q11.2 Rearrangement Disorders
  • Neurofibromatosis 1
  • Williams-Beuren Syndrome
  • Sotos Syndrome
  • X Chromosome Rearrangements
  • Pelizaeus–Merzbacher Disease and Spastic Paraplegia Type 2
  • Y-Chromosomal Rearrangements and Azoospermia
  • Inversion Chromosomes
  • Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions
  • inv dup(15) and inv dup(22)
  • Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements
  • Functional Aspects of Genome Structure
  • Recombination Hotspots in Nonallelic Homologous Recombination
  • Position Effects
  • Genomic Disorders: Modeling And Assays
  • Chromosome-Engineered Mouse Models
  • Array-CGH for the Analysis of Constitutional Genomic Rearrangements.

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