about
Introduction: Williams syndromeNSUN6 is a human RNA methyltransferase that catalyzes formation of m5C72 in specific tRNAsThe Wnt serpentine receptor Frizzled-9 regulates new bone formation in fracture healingControl of bone formation by the serpentine receptor Frizzled-9Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.The role of rare variants in systolic blood pressure: analysis of ExomeChip data in HyperGEN African AmericansSuperfamily-wide portrait of serine hydrolase inhibition achieved by library-versus-library screeningDistribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsOpposite effects on facial morphology due to gene dosage sensitivityInversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population controlThe WSTF-ISWI chromatin remodeling complex transiently associates with the human inactive X chromosome during late S-phase prior to BRCA1 and γ-H2AXCognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.Genes expressed in specific areas of the human fetal cerebral cortex display distinct patterns of evolution.Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disordersClick-generated triazole ureas as ultrapotent in vivo-active serine hydrolase inhibitors.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Bisphenol A alters autonomic tone and extracellular matrix structure and induces sex-specific effects on cardiovascular function in male and female CD-1 mice.Unpredictable postoperative global cerebral infarction in the patient of williams syndrome accompanying moyamoya disease"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromesWilliams-Beuren Syndrome: A Case Confirmed by Array-CGH MethodThe Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli.Endocrine dysfunctions in children with Williams-Beuren syndrome.Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study.New aspects of the molecular constituents of tissue barriers.Mitral valve diseases in Williams syndrome-case report and review of the literature.Roles of LIM kinases in central nervous system function and dysfunction.Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs.Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis.Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Handedness and corpus callosal morphology in Williams syndrome.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The genomic basis of the Williams-Beuren syndrome.
@ast
The genomic basis of the Williams-Beuren syndrome.
@en
The genomic basis of the Williams-Beuren syndrome.
@nl
type
label
The genomic basis of the Williams-Beuren syndrome.
@ast
The genomic basis of the Williams-Beuren syndrome.
@en
The genomic basis of the Williams-Beuren syndrome.
@nl
prefLabel
The genomic basis of the Williams-Beuren syndrome.
@ast
The genomic basis of the Williams-Beuren syndrome.
@en
The genomic basis of the Williams-Beuren syndrome.
@nl
P1476
The genomic basis of the Williams-Beuren syndrome.
@en
P2093
C Schubert
P2888
P304
P356
10.1007/S00018-008-8401-Y
P577
2009-04-01T00:00:00Z