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A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chickenMechanisms underlying structural variant formation in genomic disordersThe hidden side of unstable DNA repeats: Mutagenesis at a distanceOrigin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA AmplificationThe Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motilityComplex chromosomal rearrangements mediated by break-induced replication involve structure-selective endonucleases.RAD51 mutants cause replication defects and chromosomal instabilityGJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansInteraction-based evolution: how natural selection and nonrandom mutation work togetherMechanisms for Structural Variation in the Human GenomeBreakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Characterizing complex structural variation in germline and somatic genomesComplex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.A novel acquired inv(2)(p23.3q24.3) with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2 in a patient with chronic thrombocytopenia and anemiaFormation of complex and unstable chromosomal translocations in yeastIdentification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSMutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profilesGlobal chromosomal structural instability in a subpopulation of starving Escherichia coli cellsCopy number variation in human health, disease, and evolution.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.A time-invariant principle of genome evolution.Identification of copy number variation hotspots in human populations.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsGenomic hypomethylation in the human germline associates with selective structural mutability in the human genome.Recovery of arrested replication forks by homologous recombination is error-prone.Error-Prone Repair of DNA Double-Strand Breaks.Molecular cytogenetic diagnosis and somatic genome variations.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.Diversity of mating-type chromosome structures in the yeast Zygosaccharomyces rouxii caused by ectopic exchanges between MAT-like loci.Coupling of V(D)J recombination to the cell cycle suppresses genomic instability and lymphoid tumorigenesis.The partitioning and copy number control systems of the selfish yeast plasmid: an optimized molecular design for stable persistence in host cells.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Complex human chromosomal and genomic rearrangements.
@ast
Complex human chromosomal and genomic rearrangements.
@en
type
label
Complex human chromosomal and genomic rearrangements.
@ast
Complex human chromosomal and genomic rearrangements.
@en
prefLabel
Complex human chromosomal and genomic rearrangements.
@ast
Complex human chromosomal and genomic rearrangements.
@en
P2860
P1433
P1476
Complex human chromosomal and genomic rearrangements.
@en
P2093
Claudia M B Carvalho
James R Lupski
P2860
P304
P356
10.1016/J.TIG.2009.05.005
P50
P577
2009-06-25T00:00:00Z