Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23
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Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complexSubmicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesThe subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeOxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behaviorVisual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disordersEssential role of the N-terminal region of TFII-I in viability and behavior.Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismReduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsRearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Global 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 syndromeAutistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation.Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Autism, language delay and mental retardation in a patient with 7q11 duplicationChallenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in developmentBiochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 years laterThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Signal-induced functions of the transcription factor TFII-I.William's syndrome: gene expression is related to parental origin and regional coordinate control.Identification of the TFII-I family target genes in the vertebrate genome.GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeatsSmaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.A genome-wide linkage and association scan reveals novel loci for autism.Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.Genetic mapping of brain plasticity across development in Williams syndrome: ERP markers of face and language processing.Pathophysiology of TFII-I: Old Guard Wearing New Hats.Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
P2860
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P2860
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23
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2003 nî lūn-bûn
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2003 թուականին հրատարակուած գիտական յօդուած
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2003 թվականին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年论文
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name
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@ast
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@en
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
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type
label
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@ast
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@en
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@nl
prefLabel
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@ast
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@en
Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
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P2093
P2860
P1433
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Williams syndrome deficits in ...... nd GTF2I on chromosome 7q11.23
@en
P2093
Alan Lincoln
Fredric E Rose
Hamao Hirota
Julie R Korenberg
Lora S Salandanan
Makiko Osawa
Mariko Sunahara
Rumiko Matsuoka
Xiao-Ning Chen
P2860
P304
P356
10.1097/01.GIM.0000076975.10224.67
P407
P577
2003-01-01T00:00:00Z