Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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GATA4 loss-of-function mutations underlie familial tetralogy of fallotCongenital heart disease: emerging themes linking genetics and developmentModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyFunctional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndromeTowards a safety net for management of 22q11.2 deletion syndrome: guidelines for our timesThe importance of copy number variation in congenital heart diseaseDecreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplicationGenotype-phenotype correlation in 22q11.2 deletion syndrome.Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.New Genetic Insights into Congenital Heart Disease.Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesisClinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eramiRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome.22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.22q11.2 deletion syndromeA 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome.Genetic Studies in Autism.Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome.Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.Clinical variability of chromosome 22q11.2 deletion syndrome.Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Molecular genetics of 22q11.2 deletion syndromeA loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication
P2860
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P2860
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@ast
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@en
type
label
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@ast
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@en
prefLabel
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@ast
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@en
P2093
P2860
P50
P356
P1433
P1476
Genotype and cardiovascular ph ...... .2 deletion syndrome patients.
@en
P2093
Alan Shanske
Ann Swillen
Anna Blonska
Anne Marie Higgins
Anne S Bassett
Beverly Emanuel
Bruno Marino
Courtney Carpenter
Damian Heine-Suner
Elizabeth Goldmuntz
P2860
P304
P356
10.1002/HUMU.21568
P50
P577
2011-09-16T00:00:00Z