Genomic disorders : the genomic basis of disease / edited by James R. Lupski, Paweł Stankiewicz.

Format:

Book

Contributor:

Lupski, James R., 1957-

Stankiewicz, Paweł.

Language:

English

Subjects (All):

Genetic disorders--Molecular aspects.

Genetic disorders.

Genetic Diseases, Inborn.

Chromosome Aberrations.

Genome Components.

Genome.

Genomics--methods.

Medical Subjects:

Genetic Diseases, Inborn.

Chromosome Aberrations.

Genome Components.

Genome.

Genomics--methods.

Physical Description:

xvii, 426 pages : illustrations (some color) ; 27 cm

Place of Publication:

Totowa, N.J. : Humana Press, [2006]

Contents:

The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman

Alu elements / Prescott Deininger

The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme ... [et al.]

Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka

Segmental duplications / Andrew J. Sharp and Evan E. Eichler

Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells

Genetic basis of olfactory deficits / Idan Menashe, Ester Feldmesser, and Doron Lancet

Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd

Primate chromosome evolution / Stefan Müller

Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono

The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski

Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Paweł Stankiewicz, Weimin Bi, and James R. Lupski

Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow

Neurofibromatosis 1 / Karen Stephens

Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne

Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto

X chromosome rearrangements / Pauline H. Yen

Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue

Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith

Inversion chromosomes / Orsetta Zuffardi ... [et al.]

Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer

Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick

Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos

Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski

Position effects / Paweł Stankiewicz

Chromosome-engineered mouse models / Pentao Liu

Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.].

Notes:

Includes bibliographical references and index.

ISBN:

1588295591

OCLC:

61121118

Publisher Number:

9781588295590