Genomic Disorders

Name: Genomic Disorders
Price: 1205 SEK
Availability: InStock

The Genomic Basis of Disease

AvJames R. Lupski,Pawel T. Stankiewicz

Häftad, Engelska, 2010

1 205 kr

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Beskrivning

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Produktinformation

Utgivningsdatum:2010-12-09
Mått:178 x 254 x 23 mm
Vikt:771 g
Format:Häftad
Språk:Engelska
Antal sidor:426
Förlag:Humana Press Inc.
ISBN:9781617376429

Utforska kategorier

Patologi inom Medicin

Recensioner i media

"...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

Innehållsförteckning

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.