An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
about
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeGlobal analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Gain of chromosome band 7q11 in papillary thyroid carcinomas of young patients is associated with exposure to low-dose irradiationTRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survivalThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype.Animal models of Williams syndrome.Role of Splice Variants of Gtf2i, a Transcription Factor Localizing at Postsynaptic Sites, and Its Relation to Neuropsychiatric Diseases.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.PI3K/Akt-dependent functions of TFII-I transcription factors in mouse embryonic stem cells.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.CLIP2 as radiation biomarker in papillary thyroid carcinoma.The contribution of GTF2I haploinsufficiency to Williams syndrome.7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.DPP6 gene disruption in a family with Gilles de la Tourette syndrome.Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome
P2860
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P2860
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
description
2010 nî lūn-bûn
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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
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2010年論文
@zh-mo
2010年論文
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2010年论文
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name
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@ast
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@en
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@nl
type
label
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@ast
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@en
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@nl
prefLabel
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@ast
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@en
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
@nl
P2093
P2860
P50
P356
P1476
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
@en
P2093
Alexandre Reymond
Bartolomeo Augello
Cédric Howald
Elisa Biamino
Giuseppe Merla
Maria Giuseppina Turturo
Serena Forzano
P2860
P2888
P356
10.1038/EJHG.2009.108
P577
2010-01-01T00:00:00Z