Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
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Mechanisms underlying structural variant formation in genomic disordersStructural Variation of Alu Element and Human DiseaseAluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionThe Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeCombined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.Alu-Alu fusion sequences identified at junction sites of copy number amplified regions in cancer cell lines.Alu elements in primates are preferentially lost from areas of high GC content.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.An Organismal CNV Mutator Phenotype Restricted to Early Human Development.RNA Editing and Retrotransposons in Neurology.
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P2860
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@ast
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@en
type
label
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@ast
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@en
prefLabel
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@ast
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@en
P2093
P2860
P1433
P1476
Alu-specific microhomology-med ...... hereditary spastic paraplegia.
@en
P2093
Charles F Towne
Claudia M B Carvalho
James R Lupski
Pengfei Liu
Sat Dev Batish
P2860
P2888
P304
P356
10.1097/GIM.0B013E3182106775
P407
P577
2011-06-01T00:00:00Z
P6179
1042714998