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Lupski, James R.

Genomic Disorders

Lupski, James R. - Genomic Disorders, ebook

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ISBN: 9781597450393
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Table of contents

I.Introduction

1. The CMT1A Duplication
James R. Lupski, Vincent Timmerman

II.Genomic Structure

2. Alu Elements
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

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Keywords: MEDICAL / Public Health MED078000

Author(s)
 
Publisher
Springer
Publication year
2006
Language
en
Edition
1
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9781597450393

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