Genomic Disorders
Genomic Disorders
Buch
- The Genomic Basis of Disease
- Herausgeber: Pawel T. Stankiewicz, James R. Lupski
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- Humana Press Inc., 04/2006
- Einband: Gebunden, HC runder Rücken kaschiert
- Sprache: Englisch
- ISBN-13: 9781588295590
- Umfang: 448 Seiten
- Sonstiges: w. 112 figs.
- Auflage: 2006
- Copyright-Jahr: 2006
- Gewicht: 1131 g
- Maße: 254 x 178 mm
- Stärke: 33 mm
Achtung: Artikel ist nicht in deutscher Sprache!
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Kurzbeschreibung
A Grand Survey of Genetic Diseases Causedby DNA Rearrangements by the Human Genome
Inhaltsangabe
Part I. IntroductionThe CMT1A Duplication: A Historical Perspective Viewed From Two Sides of an Ocean
James R. Lupski and Vincent Timmerman
Part II. Genomic Structure
Alu Elements
Prescott Deininger
The Impact of LINE-1 Retrotransposition on the Human Genome
Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, and John V. Moran
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
Part III. Genome Evolution
Primate Chromosome Evolution
Stefan Müller
Genome Plasticity in Evolution: The Centromere Repositioning
Mariano Rocchi and Nicoletta Archidiacono
Part IV. Genomic Rearrangements and Disease Traits
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
Pawel 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, Roberto Ciccone, Sabrina Giglio, and Tiziano Pramparo
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
Part. V. Functional Aspects of Genome Structure
Recombination Hotspots in Nonallelic Homologous Recombination
Matthew E. Hurles and James R. Lupski
Position Effects
Pawel Stankiewicz
Part. VI. Genomic Disorders: Modeling and Assays
Chromosome-Engineered Mouse Models
Pentao Liu
Array-CGH for the Analysis of Consitutional Genomic Rearrangements
Nigel P. Carter, Heike Fiegler, Susan Gribble, and Richard Redon
Part. VII. Appendices
Appendix A: Well-Characterized Rearrangement-Based Diseases and Genome Structural Features at the Locus
Pawel Stankiewicz and James R. Lupski
Appendix B: Diagnostic Potential for Chromosome Microarray Analysis
Pawel Stankiewicz, Sau W. Cheung, and Arthur L. Beaudet
Index