rs117603931
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system.
|
27374344 |
2016 |
rs146709251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system.
|
27374344 |
2016 |
rs1799983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome.
|
23359565 |
2013 |
rs149989682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients.
|
22145626 |
2012 |
rs28451617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6).
|
22445700 |
2012 |
rs533117495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glutathione-S-transferase-P1 I105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome.
|
19183974 |
2009 |
rs761495176
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glutathione-S-transferase-P1 I105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome.
|
19183974 |
2009 |
rs1800450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An association was found between two SNPs and the development of bronchopulmonary dysplasia (BPD), defined as persistent oxygen requirement at 36 weeks postmenstrual age, adjusting for covariates GA, grade of respiratory distress syndrome and days on mechanical ventilation (rs1800450 (exon 1 at codon 54, B variant): odds ratio dominant model (OR)=3.59, 95% confidence interval (CI)=1.62-7.98; rs7096206 (-221, X variant): OR=2.40, 95% CI=1.16-4.96).
|
17898783 |
2007 |
rs7096206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An association was found between two SNPs and the development of bronchopulmonary dysplasia (BPD), defined as persistent oxygen requirement at 36 weeks postmenstrual age, adjusting for covariates GA, grade of respiratory distress syndrome and days on mechanical ventilation (rs1800450 (exon 1 at codon 54, B variant): odds ratio dominant model (OR)=3.59, 95% confidence interval (CI)=1.62-7.98; rs7096206 (-221, X variant): OR=2.40, 95% CI=1.16-4.96).
|
17898783 |
2007 |