Segmental duplications and copy-number variation in the human genome.
about
Initial genomics of the human nucleolusGenomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesCopy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophyHuman genetics and genomics a decade after the release of the draft sequence of the human genomeArray-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationMultiple displacement amplification for complex mixtures of DNA fragmentsEvolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domesticationPopulation stratification of a common APOBEC gene deletion polymorphismThe DNA sequence and biological annotation of human chromosome 1Mechanisms of change in gene copy numberMapping and sequencing of structural variation from eight human genomesSubmicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesDeficiency of the cytoskeletal protein SPECC1L leads to oblique facial cleftingThe UCSC Genome Browser Database: update 2006High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationMapping copy number variation by population-scale genome sequencingClinical and molecular delineation of the 17q21.31 microdeletion syndromeCNV and nervous system diseases--what's new?Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint libraryDetailed analysis of 22q11.2 with a high density MLPA probe setImpact of whole genome amplification on analysis of copy number variantsRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesGlobal variation in copy number in the human genomeRai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colonDiscovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.Bias of selection on human copy-number variants.BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH)Mechanisms underlying structural variant formation in genomic disordersGenetic variation and the de novo assembly of human genomesClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsCurrent concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatmentA high-resolution map of segmental DNA copy number variation in the mouse genomeTFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individualsA genome-wide comparison of recent chimpanzee and human segmental duplicationsRare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaGenome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysisHigh mutation rates have driven extensive structural polymorphism among human Y chromosomes
P2860
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P2860
Segmental duplications and copy-number variation in the human genome.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Segmental duplications and copy-number variation in the human genome
@nl
Segmental duplications and copy-number variation in the human genome.
@ast
Segmental duplications and copy-number variation in the human genome.
@en
type
label
Segmental duplications and copy-number variation in the human genome
@nl
Segmental duplications and copy-number variation in the human genome.
@ast
Segmental duplications and copy-number variation in the human genome.
@en
prefLabel
Segmental duplications and copy-number variation in the human genome
@nl
Segmental duplications and copy-number variation in the human genome.
@ast
Segmental duplications and copy-number variation in the human genome.
@en
P2093
P2860
P3181
P356
P1476
Segmental duplications and copy-number variation in the human genome.
@en
P2093
Andrew J Sharp
Daniel Pinkel
Devin P Locke
Donna G Albertson
Evan E Eichler
Jeffrey A Bailey
Lisa M Pertz
Rhea U Vallente
Rick Segraves
Royden A Clark
P2860
P3181
P356
10.1086/431652
P407
P577
2005-05-25T00:00:00Z