Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.
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Submicroscopic 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 14-3-3CNV and nervous system diseases--what's new?Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice.Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countriesAutistic 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.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.The 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.Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.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.An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.Learning without representational change: development of numerical estimation in individuals with Williams syndrome.Autism, language delay and mental retardation in a patient with 7q11 duplication.GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome
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P2860
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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name
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@en
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@nl
type
label
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@en
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@nl
prefLabel
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@en
Unusual cognitive and behaviou ...... ith atypical 7q11.23 deletion.
@nl
P50
P356
P1476
Unusual cognitive and behaviou ...... with atypical 7q11.23 deletion
@en
P2093
A Selicorni
R Borgatti
P304
P356
10.1136/JMG.40.7.526
P407
P577
2003-07-01T00:00:00Z