Severe expressive-language delay related to duplication of the Williams-Beuren locus.
about
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesMutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersIntroduction: Williams syndromeAt the height of fashion: what genetics can teach us about neurodevelopmental disabilitiesCNV and nervous system diseases--what's new?Contribution of SHANK3 mutations to autism spectrum disorderStructural variation of chromosomes in autism spectrum disorderRai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Neurobiology of social behavior abnormalities in autism and Williams syndromeDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeThe nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulationRelative impact of nucleotide and copy number variation on gene expression phenotypesRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.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.The genetic variability and commonality of neurodevelopmental disease.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.Copy number deletion has little impact on gene expression levels in racehorses.Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.No 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 controlMonogenic and chromosomal causes of isolated speech and language impairment.Autism, language delay and mental retardation in a patient with 7q11 duplicationCognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.Insights on the functional impact of microRNAs present in autism-associated copy number variants.
P2860
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P2860
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Severe expressive-language delay related to duplication of the Williams-Beuren locus
@nl
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@ast
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@en
type
label
Severe expressive-language delay related to duplication of the Williams-Beuren locus
@nl
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@ast
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@en
prefLabel
Severe expressive-language delay related to duplication of the Williams-Beuren locus
@nl
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@ast
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@en
P2093
P2860
P3181
P356
P1476
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
@en
P2093
Carolyn B Mervis
Edwin J Young
Ella Peregrine
Eul-Ju Seo
Lucy R Osborne
Luis A Pérez-Jurado
Margaret Lilley
Martin J Somerville
Miguel del Campo
Stephen Bamforth
P2860
P304
P3181
P356
10.1056/NEJMOA051962
P407
P577
2005-10-01T00:00:00Z