Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
about
Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complexUnderstanding the impact of 1q21.1 copy number variantInduced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase3p-- syndrome defines a hearing loss locus in 3p25.3Mechanisms underlying structural variant formation in genomic disordersMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsThe impact of human copy number variation on gene expressionConserved piRNA Expression from a Distinct Set of piRNA Cluster Loci in Eutherian MammalsPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsPierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeCytochrome P450 Oxidoreductase Influences CYP2B6 Activity in Cyclophosphamide BioactivationRelative impact of nucleotide and copy number variation on gene expression phenotypesPopulation genomics of human gene expressionGenome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinkingBridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Copy number variation in CNP267 region may be associated with hip bone size.Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.The effect of translocation-induced nuclear reorganization on gene expression.The functional impact of structural variation in humans.Segmental duplications: evolution and impact among the current Lepidoptera genomesNovel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9pAutistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.Phenotypic impact of genomic structural variation: insights from and for human disease.Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Copy number variation modifies expression time coursesAutism, language delay and mental retardation in a patient with 7q11 duplicationAbnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromesDirect visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.
P2860
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P2860
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
description
2006 nî lūn-bûn
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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2006 թվականի օգոստոսին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@ast
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en-gb
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@nl
type
label
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@ast
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en-gb
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@nl
prefLabel
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@ast
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en-gb
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@nl
P2093
P2860
P50
P3181
P356
P1476
Submicroscopic deletion in pat ...... e nonhemizygous flanking genes
@en
P2093
Charlotte N Henrichsen
Giuseppe Merla
Robert Lyle
P2860
P304
P3181
P356
10.1086/506371
P407
P577
2006-08-01T00:00:00Z