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" Genomic disorders "
edited by James R. Lupski, Paweł Stankiewicz.
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BL
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| Record Number
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591345
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| Doc. No
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b420564
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| Title & Author
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Genomic disorders : the genomic basis of disease /\ edited by James R. Lupski, Paweł Stankiewicz.
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| Publication Statement
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Totowa, N.J. :: Humana Press,, c2006.
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| Page. NO
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xvii, 426 p. :: ill. (some col.) ;; 27 cm.
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| ISBN
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1588295591 (alk. paper)
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: 9781588295590
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: 1597450391 (e-ISBN)
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: 9781597450393 (e-ISBN)
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| Bibliographies/Indexes
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Includes bibliographical references and index.
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| Contents
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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 --
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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 --
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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.] -- Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Paweł Stankiewicz and James R. Lupski -- Appendix B: Diagnostic potential for chromosome microarray analysis / Paweł Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.
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| Subject
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Genetic disorders-- Molecular aspects.
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| Added Entry
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Lupski, James R.,1957-
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Stankiewicz, Paweł.
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