Genomic Disorders

• The CMT1A Duplication.- Genomic Structure.- Alu Elements.- The Impact of LINE-1 Retro transposition on the Human Genome.- Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses.- Segmental Duplications.- Non-B DNA and Chromosomal Rearrangements.- Genetic Basis of Olfactory Deficits.- Genomic Organization and Function of Human Centromeres.- Genome Evolution.- Primate Chromosome Evolution.- Genome Plasticity in Evolution.- Genomic Rearrangements and Disease Traits.- The CMT1A Duplication and HNPP Deletion.- Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements.- Chromosome 22q11.2 Rearrangement Disorders.- Neurofibromatosis 1.- Williams-Beuren Syndrome.- Sotos Syndrome.- X Chromosome Rearrangements.- Pelizaeus–Merzbacher Disease and Spastic Paraplegia Type 2.- Y-Chromosomal Rearrangements and Azoospermia.- Inversion Chromosomes.- Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions.- inv dup(15) and inv dup(22).- Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements.- Functional Aspects of Genome Structure.- Recombination Hotspots in Nonallelic Homologous Recombination.- Position Effects.- Genomic Disorders: Modeling And Assays.- Chromosome-Engineered Mouse Models.- Array-CGH for the Analysis of Constitutional Genomic Rearrangements.

"...an attempt to bridge the gap between genomic technology and clinical applications of genomic knowledge." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars "...a unique contribution in a very specialized field." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars