Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

Item
http://www.wikidata.org/entity/Q36961261
Mechanisms of change in gene copy numberUnrevealed mosaicism in the next-generation sequencing eraCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGenome-wide mapping and assembly of structural variant breakpoints in the mouse genomeNonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Tandem repeats and G-rich sequences are enriched at human CNV breakpointsDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Complex human chromosomal and genomic rearrangements.A recurrent translocation is mediated by homologous recombination between HERV-H elements.Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicismLarge duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
P2860

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

Item
http://www.wikidata.org/entity/Q36961261
description
2008 nî lūn-bûn
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2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Unexpected complexity at break ...... ranslocations t(1;22)(p36;q13)
@en
type
label
Unexpected complexity at break ...... ranslocations t(1;22)(p36;q13)
@en
prefLabel
Unexpected complexity at break ...... ranslocations t(1;22)(p36;q13)
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Unexpected complexity at break ...... ranslocations t(1;22)(p36;q13)
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932