Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated g...
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of...
<div><p>Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. G...
Background Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is associ...
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically...
Structural genetic changes, especially copy number variants (CNVs), represent a major source of gene...
RATIONALE: Familial recurrence studies provide strong evidence for a genetic component to the predis...
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart disease requiring surgery in in...
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong...
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its genetic basis is...
RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of ...
Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiG...
RationaleCongenital heart disease (CHD) is among the most common birth defects. Most cases are of un...
Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, occurring in...
Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. Great pro...
<p>Case, subjects from discovery sample (n = 433) with TOF; Locus, cytogenetic location of CNV; CNV ...
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of...
<div><p>Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. G...
Background Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is associ...
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically...
Structural genetic changes, especially copy number variants (CNVs), represent a major source of gene...
RATIONALE: Familial recurrence studies provide strong evidence for a genetic component to the predis...
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart disease requiring surgery in in...
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong...
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its genetic basis is...
RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of ...
Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiG...
RationaleCongenital heart disease (CHD) is among the most common birth defects. Most cases are of un...
Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, occurring in...
Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. Great pro...
<p>Case, subjects from discovery sample (n = 433) with TOF; Locus, cytogenetic location of CNV; CNV ...
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of...
<div><p>Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. G...
Background Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is associ...