a<p>Rare autosomal CNVs>10 kb and <6.5 Mb in size in individuals of European ancestry. Inclusion of three subjects with anomalies >6.5 Mb in a secondary analysis did not change the overall results (data not shown). Note that the above results also do not include 49 subjects of European ancestry with typical 1.5 to 3 Mb 22q11.2 deletions in the TOF group (all syndromic); see text for details on the results if these subjects had been included.</p>b<p>Fisher's exact test.</p
Abstract Background Copy number variants (CNVs) have been shown to increase risk for physical anomal...
<p>Deletions and duplications were assessed together (“±”) and also separately (“−” and “+”, respect...
Background Three quarters of patients with 22q11.2 Deletion Syndrome (22q11.2DS) have congenital hea...
<p>Case, subjects from discovery sample (n = 433) with TOF; Locus, cytogenetic location of CNV; CNV ...
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart disease requiring surgery in in...
<p>There were 205 ACC (panel A), 82 ACC-PLUS (panel B), 123 ACC-ONLY (panel C), 180 CBLH (panel D), ...
<p>CNV burden in familial CoA was significantly higher for deletions >100kb (p<0.01) and significant...
a<p>CNV = choroidal neovascularization.</p>b<p>P-value: Pearson chi-square or Fisher's exact test.</...
<p>There were 205 ACC (panel A), 82 ACC-PLUS (panel B), 123 ACC-ONLY (panel C), 180 CBLH (panel D), ...
Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiG...
<p>Total number of CNVs on gonosomes and autosomes. CNV burden was significantly higher for large (>...
Structural genetic changes, especially copy number variants (CNVs), represent a major source of gene...
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder,...
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understand...
Item does not contain fulltextRecent studies have revealed a new type of variation in the human geno...
Abstract Background Copy number variants (CNVs) have been shown to increase risk for physical anomal...
<p>Deletions and duplications were assessed together (“±”) and also separately (“−” and “+”, respect...
Background Three quarters of patients with 22q11.2 Deletion Syndrome (22q11.2DS) have congenital hea...
<p>Case, subjects from discovery sample (n = 433) with TOF; Locus, cytogenetic location of CNV; CNV ...
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital heart disease requiring surgery in in...
<p>There were 205 ACC (panel A), 82 ACC-PLUS (panel B), 123 ACC-ONLY (panel C), 180 CBLH (panel D), ...
<p>CNV burden in familial CoA was significantly higher for deletions >100kb (p<0.01) and significant...
a<p>CNV = choroidal neovascularization.</p>b<p>P-value: Pearson chi-square or Fisher's exact test.</...
<p>There were 205 ACC (panel A), 82 ACC-PLUS (panel B), 123 ACC-ONLY (panel C), 180 CBLH (panel D), ...
Background: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiG...
<p>Total number of CNVs on gonosomes and autosomes. CNV burden was significantly higher for large (>...
Structural genetic changes, especially copy number variants (CNVs), represent a major source of gene...
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder,...
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understand...
Item does not contain fulltextRecent studies have revealed a new type of variation in the human geno...
Abstract Background Copy number variants (CNVs) have been shown to increase risk for physical anomal...
<p>Deletions and duplications were assessed together (“±”) and also separately (“−” and “+”, respect...
Background Three quarters of patients with 22q11.2 Deletion Syndrome (22q11.2DS) have congenital hea...