A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
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The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathwayMechanisms of change in gene copy numberRare chromosomal deletions and duplications increase risk of schizophreniaX-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentMapping copy number variation by population-scale genome sequencingdbCRID: a database of chromosomal rearrangements in human diseasesThe tandem inversion duplication in Salmonella enterica: selection drives unstable precursors to final mutation typesCNV and nervous system diseases--what's new?Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint libraryA sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genomeDisruption of the neurexin 1 gene is associated with schizophreniaLarge recurrent microdeletions associated with schizophreniaMechanisms underlying structural variant formation in genomic disordersGenetic Susceptibility to Rhodococcus equiClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsChromothripsis, an unexpected novel form of complexity for chromosomal rearrangementsCNVs: harbingers of a rare variant revolution in psychiatric geneticsHuman molecular cytogenetics: From cells to nucleotidesGeneration of tandem direct duplications by reversed-ends transposition of maize ac elementsStructural variation mutagenesis of the human genome: Impact on disease and evolution.A mechanism of gene amplification driven by small DNA fragments.Complex chromosomal rearrangements mediated by break-induced replication involve structure-selective endonucleases.New insights into the generation and role of de novo mutations in health and diseaseNoncanonical views of homology-directed DNA repairReplication stress in Mammalian cells and its consequences for mitosisRAD51 mutants cause replication defects and chromosomal instabilityPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseDUF1220-domain copy number implicated in human brain-size pathology and evolutionGJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeSomatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsFrequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during AgingMutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansAsexual populations of the human malaria parasite, Plasmodium falciparum, use a two-step genomic strategy to acquire accurate, beneficial DNA amplificationsInteraction-based evolution: how natural selection and nonrandom mutation work togetherProperties and rates of germline mutations in humansCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsX-linked acrogigantism syndrome: clinical profile and therapeutic responsesThe role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Mechanisms for Structural Variation in the Human Genome
P2860
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P2860
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A DNA replication mechanism fo ...... ociated with genomic disorders
@ast
A DNA replication mechanism fo ...... ociated with genomic disorders
@en
A DNA replication mechanism fo ...... ociated with genomic disorders
@nl
type
label
A DNA replication mechanism fo ...... ociated with genomic disorders
@ast
A DNA replication mechanism fo ...... ociated with genomic disorders
@en
A DNA replication mechanism fo ...... ociated with genomic disorders
@nl
prefLabel
A DNA replication mechanism fo ...... ociated with genomic disorders
@ast
A DNA replication mechanism fo ...... ociated with genomic disorders
@en
A DNA replication mechanism fo ...... ociated with genomic disorders
@nl
P2093
P3181
P1433
P1476
A DNA replication mechanism fo ...... ociated with genomic disorders
@en
P2093
Claudia M B Carvalho
James R Lupski
Jennifer A Lee
P304
P3181
P356
10.1016/J.CELL.2007.11.037
P407
P577
2007-12-28T00:00:00Z