Lupski, James R.
Genomic Disorders
I.Introduction
1. The CMT1A Duplication
James R. Lupski, Vincent Timmerman
II.Genomic Structure
2.
Prescott Deininger
3. The Impact of LINE-1 Retro transposition on the Human Genome
Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, John V. Moran
4. Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses
Adam Pavlicek, Jerzy Jurka
5. Segmental Duplications
Andrew J. Sharp, Evan E. Eichler
6. Non-B DNA and Chromosomal Rearrangements
Albino Bacolla, Robert D. Wells
7. Genetic Basis of Olfactory Deficits
Idan Menashe, Ester Feldmesser, Doron Lancet
8. Genomic Organization and Function of Human Centromeres
Huntington E Willard, M. Katharine Rudd
III.Genome Evolution
9. Primate Chromosome Evolution
Stefan Müller
10. Genome Plasticity in Evolution
Mariano Rocchi, Nicoletta Archidiacono
IV.Genomic Rearrangements and Disease Traits
11. The CMT1A Duplication and HNPP Deletion
Vincent Timmerman, James R. Lupski
12. Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements
Pawel Stankiewicz, Weimin Bi, James R. Lupski
13. Chromosome 22q11.2 Rearrangement Disorders
Bernice E. Morrow
14. Neurofibromatosis 1
Karen Stephens
15. Williams-Beuren Syndrome
Stephen W. Scherer, Lucy R. Osborne
16. Sotos Syndrome
Naohiro Kurotaki, 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, Chris Tyler-Smith
20. Inversion Chromosomes
Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio, Tiziano Pramparo
21. Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions
Blake C. Ballif, Lisa G. Shaffer
22. inv dup(15) and inv dup(22)
Heather E. McDermid, Rachel Wevrick
23. Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements
Thoas Fioretos
V.Functional Aspects of Genome Structure
24. Recombination Hotspots in Nonallelic Homologous Recombination
Matthew E. Hurles, James R. Lupski
25. Position Effects
Pawel Stankiewicz
VI.Genomic Disorders: Modeling And Assays
26. Chromosome-Engineered Mouse Models
Pentao Liu
27. Array-CGH for the Analysis of Constitutional Genomic Rearrangements
Nigel P. Carter, Heike Fiegler, Susan Gribble, Richard Redon
DRM-restrictions
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Keywords: MEDICAL / Public Health MED078000
- Author(s)
- Lupski, James R.
- Stankiewicz, Pawel
- Publisher
- Springer
- Publication year
- 2006
- Language
- en
- Edition
- 1
- Category
- Medicine, Health Care, Mode
- Format
- Ebook
- eISBN (PDF)
- 9781597450393