Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes - Wikidata - wikimedia - TriplyDB

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

http://www.wikidata.org/entity/Q22337162

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Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex Understanding the impact of 1q21.1 copy number variant Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase 3p-- syndrome defines a hearing loss locus in 3p25.3 Mechanisms underlying structural variant formation in genomic disorders Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements The impact of human copy number variation on gene expression Conserved piRNA Expression from a Distinct Set of piRNA Cluster Loci in Eutherian Mammals Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome Cytochrome P450 Oxidoreductase Influences CYP2B6 Activity in Cyclophosphamide Bioactivation Relative impact of nucleotide and copy number variation on gene expression phenotypes Population genomics of human gene expression Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking Bridging 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 6q27 Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism From 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 genomes Novel 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 9p Autistic 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 courses Autism, language delay and mental retardation in a patient with 7q11 duplication Abnormal 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 syndromes Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.

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P2860

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

http://www.wikidata.org/entity/Q22337162

description

2006 nî lūn-bûn

@nan

2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի օգոստոսին հրատարակված գիտական հոդված

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2006年の論文

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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

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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type

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

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American Journal of Human Genetics

P1476

Submicroscopic deletion in pat ...... e nonhemizygous flanking genes

@en

P2093

Charlotte N Henrichsen

http://www.w3.org/2001/XMLSchema#string

Giuseppe Merla

http://www.w3.org/2001/XMLSchema#string

Robert Lyle

http://www.w3.org/2001/XMLSchema#string

P2860

Fine-scale structural variation of the human genome

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

Elastin is an essential determinant of arterial morphogenesis

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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332-41

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scholarly article

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2775087

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10.1086/506371

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2

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79

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Stylianos Antonarakis

Alexandre Reymond

Marie-Thérèse Zabot

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2006-08-01T00:00:00Z

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6957839

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16826523

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1559497

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