Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
about
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionDeletions of chromosomal regulatory boundaries are associated with congenital disease.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Submicroscopic deletions at 13q32.1 cause congenital microcoria.Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.DNA damage response factors from diverse pathways, including DNA crosslink repair, mediate alternative end joining.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs).PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeLoss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingHidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Genomic and oncogenic preference of HBV integration in hepatocellular carcinoma.Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene.Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism.Non-coding variation in disorders of sex development.Birth of three stowaway-like MITE families via microhomology-mediated miniaturization of a Tc1/Mariner element in the yellow fever mosquito.Decoding NF1 Intragenic Copy-Number Variations.Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.Imprecision and DNA Break Repair Biased Towards Incompatible End Joining in Leukemia.Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion
P2860
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P2860
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Microhomology-mediated mechani ...... gene or its regulatory domain.
@ast
Microhomology-mediated mechani ...... gene or its regulatory domain.
@en
Microhomology-mediated mechani ...... gene or its regulatory domain.
@nl
type
label
Microhomology-mediated mechani ...... gene or its regulatory domain.
@ast
Microhomology-mediated mechani ...... gene or its regulatory domain.
@en
Microhomology-mediated mechani ...... gene or its regulatory domain.
@nl
prefLabel
Microhomology-mediated mechani ...... gene or its regulatory domain.
@ast
Microhomology-mediated mechani ...... gene or its regulatory domain.
@en
Microhomology-mediated mechani ...... gene or its regulatory domain.
@nl
P2093
P2860
P1433
P1476
Microhomology-mediated mechani ...... gene or its regulatory domain.
@en
P2093
Barbara D'haene
Björn Menten
Claudia M B Carvalho
Diane Beysen
Elfride De Baere
Hannah Verdin
James R Lupski
Julian Nevado
Pablo Lapunzina
P2860
P304
P356
10.1371/JOURNAL.PGEN.1003358
P577
2013-03-14T00:00:00Z