1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
about
Detailed analysis of 22q11.2 with a high density MLPA probe setChromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceSept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in miceA deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewMolecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Disorders caused by chromosome abnormalities.Genomic sister-disorders of neurodevelopment: an evolutionary approachNovel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR).B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.Phenotypic variability of distal 22q11.2 copy number abnormalities
P2860
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P2860
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@ast
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@en
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@nl
type
label
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@ast
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@en
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@nl
prefLabel
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@ast
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@en
1.5 Mb de novo 22q11.21 microd ...... nd dysmorphic facial features.
@nl
P2093
P50
P1433
P1476
1.5 Mb de novo 22q11.21 microd ...... and dysmorphic facial features
@en
P2093
Di Benedetto D
Spalletta A
P304
P356
10.1111/J.1399-0004.2007.00750.X
P577
2007-02-01T00:00:00Z