Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
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Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndromeMechanisms underlying structural variant formation in genomic disordersHigh-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestryNeurobiology of social behavior abnormalities in autism and Williams syndromeUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeGTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family membersMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismThe nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulationThe role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren SyndromeDynamic regulatory network reconstruction for Alzheimer's disease based on matrix decomposition techniques.Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsGlobal analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndromeA theoretical molecular network for dyslexia: integrating available genetic findings.A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation.Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patientsThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndromeEffects of proinflammatory cytokines on the claudin-19 rich tight junctions of human retinal pigment epithelium.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.Regionally specific increased volume of the amygdala in Williams syndrome: evidence from surface-based modelingSynaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome.Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaSmaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further CharacterisationGenetic mapping of brain plasticity across development in Williams syndrome: ERP markers of face and language processing.Animal models of Williams syndrome.Phenotypic variability and genetic susceptibility to genomic disordersPathophysiology of TFII-I: Old Guard Wearing New Hats.Modeling Williams syndrome with induced pluripotent stem cells.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.Metabolic abnormalities in Williams-Beuren syndrome.The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.The regulatory landscape of osteogenic differentiation.Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
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P2860
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@en
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@nl
type
label
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@en
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@nl
prefLabel
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@en
Partial 7q11.23 deletions furt ...... ndrome neurocognitive profile.
@nl
P2093
P356
P1476
Partial 7q11.23 deletions furt ...... yndrome neurocognitive profile
@en
P2093
F Gallastegui
J Martínez de la Iglesia
L A Pérez-Jurado
L F Magano
M Del Campo
U Schweigmann
P304
P356
10.1136/JMG.2009.071712
P407
P577
2009-11-05T00:00:00Z