Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
about
Of mice and men: molecular genetics of congenital heart diseaseStructural variation mutagenesis of the human genome: Impact on disease and evolution.Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesCopy 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 miceEvidence for involvement of GNB1L in autism.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewSearch for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorderComparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Structural and numerical changes of chromosome X in patients with esophageal atresiaThe molecular genetics of congenital heart disease: a review of recent developments.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsA unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autismRare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia.A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Genomic sister-disorders of neurodevelopment: an evolutionary approachAssociation testing of copy number variants in schizophrenia and autism spectrum disorders.Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb DuplicationTwo patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.Mechanisms for human genomic rearrangementsIdentification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaGenomic disorders ten years on.Evidence that duplications of 22q11.2 protect against schizophreniaThe contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart diseaseGenomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.Duplication hotspots, rare genomic disorders, and common disease.Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.Application of array-comparative genomic hybridization in tetralogy of Fallot.
P2860
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P2860
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@ast
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@en
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@nl
type
label
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@ast
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@en
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@nl
prefLabel
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@ast
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@en
Microduplications of 22q11.2 a ...... ated with variable phenotypes.
@nl
P2093
P1433
P1476
Microduplications of 22q11.2 a ...... iated with variable phenotypes
@en
P2093
A Craig Chinault
Ankita Patel
Catherine E Keegan
David T Miller
Elizabeth Roeder
Hagith Yonath
James R Lupski
Jonathan Picker
Sau Wai Cheung
Tiffanee Lenzi
P2888
P304
P356
10.1097/GIM.0B013E31816B64C2
P407
P577
2008-04-01T00:00:00Z
P5875
P6179
1001368551