Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesIdentification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisCNV and nervous system diseases--what's new?Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseNeurobiology of social behavior abnormalities in autism and Williams syndromeUsing transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeIntracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren SyndromeDisease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.High expression of MMP9 in glioma affects cell proliferation and is associated with patient survival rates.Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors.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 countriesThe effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in developmentTRIM8 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.Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevisWilliam's syndrome: gene expression is related to parental origin and regional coordinate control.Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndromeA New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.Autism, language delay and mental retardation in a patient with 7q11 duplication.Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
P2860
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P2860
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Two high throughput technologi ...... ients with atypical deletions.
@en
Two high throughput technologi ...... ients with atypical deletions.
@nl
type
label
Two high throughput technologi ...... ients with atypical deletions.
@en
Two high throughput technologi ...... ients with atypical deletions.
@nl
prefLabel
Two high throughput technologi ...... ients with atypical deletions.
@en
Two high throughput technologi ...... ients with atypical deletions.
@nl
P2093
P2860
P50
P356
P1476
Two high throughput technologi ...... ients with atypical deletions.
@en
P2093
H Fryssira
M C Digilio
U Choudhury
P2860
P304
P356
10.1136/JMG.2005.034009
P407
P577
2005-07-01T00:00:00Z