Genomic disorders : the genomic basis of disease için kapak resmi
Başlık:
Genomic disorders : the genomic basis of disease
Yazar:
Lupski, James R., 1957-
ISBN:
9781588295590

9781597450393
Yayın Bilgileri:
Totowa, N.J. : Humana Press, c2006.
Fiziksel Tanımlama:
xvii, 426 s. : res.
İçerik:
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 / Andy 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. Katherine Rudd -- Primate chromosome evolution / Stefan Müller-- Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Achidiacono --

CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski -- Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other 17p rearrangements / Pawel Stankiewicz, Weimin Bi, and James R. Lupski -- Chromosome 22q 11.2 rearrangement disorders / Bernice E. Morrow -- Neurofibromatosis 1 / Karen Stephens -- Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne -- Sotos syndrome / Naomichi Matsumoto and Naohiro Kurotaki -- X chromosome rearrangements / Pauline H. Yen -- Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue -- Y-chromosome 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 effect / Pawel Stankiewicz -- Chromosome-engineered mouse models / Pentao Liu -- Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.].
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Kitap 7.2/12/397860 QZ 50 G3354 2006
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