Rare variants in NR2F2 cause congenital heart defects in humans.
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Cytogenomic Aberrations in Congenital Cardiovascular MalformationsA Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in GermanyPITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger SyndromeGenetics and Genomics of Congenital Heart Disease.Etiology and clinical presentation of birth defects: population based studyAbnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFIILarge cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHDetection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencingContribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.Choose your destiny: Make a cell fate decision with COUP-TFII.A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.The role of the orphan nuclear receptor COUP-TFII in tumorigenesis.Centre for human development, stem cells & regeneration.Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.Genetic disorders of nuclear receptors.DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.Clinical application of whole-exome sequencing across clinical indications.A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.A novel NKX2.6 mutation associated with congenital ventricular septal defect.Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing.Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal AbnormalitiesNr2f1a balances atrial chamber and atrioventricular canal size via BMP signaling-independent and -dependent mechanisms.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.A COUP-TFII Human Embryonic Stem Cell Reporter Line to Identify and Select Atrial Cardiomyocytes.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Next generation sequencing applications for cardiovascular disease.Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease.
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P2860
Rare variants in NR2F2 cause congenital heart defects in humans.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on April 2014
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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
Rare variants in NR2F2 cause congenital heart defects in humans.
@en
Rare variants in NR2F2 cause congenital heart defects in humans.
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type
label
Rare variants in NR2F2 cause congenital heart defects in humans.
@en
Rare variants in NR2F2 cause congenital heart defects in humans.
@nl
prefLabel
Rare variants in NR2F2 cause congenital heart defects in humans.
@en
Rare variants in NR2F2 cause congenital heart defects in humans.
@nl
P2093
P2860
P50
P1476
Rare variants in NR2F2 cause congenital heart defects in humans.
@en
P2093
Anne-Karin Arndt
Anneke M Lucassen
Anthony P Salmon
Barbara Mulder
Bernard Thienpont
Catherine Cosgrove
Catherine L Mercer
Chris Thornborough
Christine Harnack
David F Fitzpatrick
P2860
P304
P356
10.1016/J.AJHG.2014.03.007
P407
P50
P577
2014-04-01T00:00:00Z