Research Catalog
Genomic disorders : the genomic basis of disease
- Title
- Genomic disorders : the genomic basis of disease / edited by James R. Lupski, Paweł Stankiewicz.
- Publication
- Totowa, N.J. : Humana Press, [2006], ©2006.
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2 Items
| Status | Format | Access | Call Number | Item Location |
|---|---|---|---|---|
Not available - Please for assistance. | Text | Request in advance | RB155.5 .G465 2006 | Off-site |
Not available - Please for assistance. | Text | Use in library | Off-site |
Holdings
Details
- Additional Authors
- Description
- xvii, 426 pages : illustrations (some color); 27 cm
- Subject
- Bibliography (note)
- Includes bibliographical references and index.
- Contents
- 1. The CMT1A duplication : a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman -- 2. Alu elements / Prescott Deininger -- 3. The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme, Deanna A. Kulpa, Jose Luis Garcia Perez and John V. Moran -- 4. Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka -- 5. Segmental duplications / Andrew J. Sharp and Evan E. Eichler -- 6. Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells -- 7. Genetic basis of olfactory deficits / Idan Menashe, Ester Feldnesser and Doron Lancet -- 8. Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd -- 9. Primate chromosome evolution / Stefan Muller -- 10. Genome plasticity in evolution : the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono -- 11. The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski -- 12. Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Pawel Stankiewicz, Weimin Bi and James R. Lupski -- 13. Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow -- 14. Neurofibromatosis 1 / Karen Stephens -- 15. Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne -- 16. Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto -- 17. X chromosome rearrangements / Pauline H. Yen -- 18. Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue -- 19. Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith -- 20. Inversion chromosomes / Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio and Tiziano Pramparo -- 21. Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer -- 22. inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick -- 23. Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos -- 24. Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski -- 25. Position effects / Pawel Stankiewicz -- 26. Chromosome-engineered mouse models / Pentao Liu -- 27. Array-CGH or the analysis of constitutional genomic rearrangements / Nigel P. Carter, Heike Fiegler, Susan Gribble and Richard Redon -- App. A. Well-characterized rearrangement-based diseases and genome structural features at the locus / Pawel Stankiewicz and James R. Lupski -- App. B. Diagnostic potential for chromosome microarray analysis / Pawel Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.
- ISBN
- 1588295591 (alk. paper)
- 1597450391 (e-ISBN)
- LCCN
- 2005020461
- 9781588295590
- OCLC
- ocm61121118
- SCSB-5260175
- Owning Institutions
- Columbia University Libraries