GATA4 sequence variants in patients with congenital heart disease.
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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new familiesNew mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleMutations in NTRK3 suggest a novel signaling pathway in human congenital heart diseaseGATA4 loss-of-function mutations underlie familial tetralogy of fallotLoss-of-function mutation in GATA4 causes anomalies of human testicular developmentChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaGenetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerOf mice and men: molecular genetics of congenital heart diseaseMammalian sex determination—insights from humans and mice.Congenital heart disease-causing Gata4 mutation displays functional deficits in vivoThe transcription factor Atonal homolog 8 regulates Gata4 and Friend of Gata-2 during vertebrate developmentInteraction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac developmentIncreased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataGenetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.Molecular genetics of congenital atrial septal defectsProtein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.Identification of GATA6 sequence variants in patients with congenital heart defects.Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disordersRare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Identification of functional mutations in GATA4 in patients with congenital heart diseaseLoss of Gata5 in mice leads to bicuspid aortic valve.c.620C>T mutation in GATA4 is associated with congenital heart disease in South India.Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic NetworksA Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.New Genetic Insights into Congenital Heart Disease.An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defectsImpact of Mendelian inheritance in cardiovascular disease.Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseA variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.GATA5 loss-of-function mutations underlie tetralogy of fallot.Novel GATA4 mutations in patients with congenital ventricular septal defects.Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defectDe novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Disruption of aryl hydrocarbon receptor homeostatic levels during embryonic stem cell differentiation alters expression of homeobox transcription factors that control cardiomyogenesisThe 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 diseaseA study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.Mutation spectrum of GATA4 associated with congenital atrial septal defectsIncreased Hemodynamic Load in Early Embryonic Stages Alters Endocardial to Mesenchymal Transition.Stem cell models of cardiac development and disease.From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.
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GATA4 sequence variants in patients with congenital heart disease.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on December 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
GATA4 sequence variants in patients with congenital heart disease.
@en
GATA4 sequence variants in patients with congenital heart disease.
@nl
type
label
GATA4 sequence variants in patients with congenital heart disease.
@en
GATA4 sequence variants in patients with congenital heart disease.
@nl
prefLabel
GATA4 sequence variants in patients with congenital heart disease.
@en
GATA4 sequence variants in patients with congenital heart disease.
@nl
P2093
P2860
P356
P1476
GATA4 sequence variants in patients with congenital heart disease.
@en
P2093
A Tomita-Mitchell
C D Morris
C L Maslen
E Goldmuntz
P2860
P304
P356
10.1136/JMG.2007.052183
P407
P50
P577
2007-12-01T00:00:00Z