TY  - BOOK
AU  - Lupski,James R.
AU  - Stankiewicz,Pawe1
TI  - Genomic disorders: the genomic basis of disease 
SN  - 1588295591 (alk. paper)
U1  - 616.042 22
PY  - 2006///
CY  - Totowa, N.J.
PB  - Humana Press
KW  - Genetic disorders
KW  - Molecular aspects
KW  - Genetic Diseases, Inborn
KW  - Chromosome Aberrations
KW  - Genome Components
KW  - Genome
KW  - Genomics
KW  - methods
N1  - Includes bibliographical references and index; 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 Mوuller -- 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 / Pawe1 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 / Pawe1 Stankiewicz -- Chromosome-engineered mouse models / Pentao Liu -- Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.] -- Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Pawe1 Stankiewicz and James R. Lupski -- Appendix B: Diagnostic potential for chromosome microarray analysis / Pawe1 Stankiewicz, Sau W. Cheung and Arthur L. Beaudet
UR  - http://www.loc.gov/catdir/toc/ecip0516/2005020461.html
UR  - http://www.loc.gov/catdir/enhancements/fy0825/2005020461-d.html
UR  - http://www.loc.gov/catdir/toc/ecip0516/2005020461.html
UR  - http://www.loc.gov/catdir/enhancements/fy0825/2005020461-d.html
ER  -