rs143383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches.
|
20633687 |
2010 |
rs143044921
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs141498002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1276834647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation.
|
24075189 |
2013 |
rs121908604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively.
|
17568391 |
2007 |
rs121908603
|
|
|
0.020 |
GeneticVariation |
BEFREE |
For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively.
|
17568391 |
2007 |
rs121908603
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD.
|
21919901 |
2012 |
rs113871094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060499548
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
rs1057518944
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1028344225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation.
|
24075189 |
2013 |
rs1028344225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia.
|
27120018 |
2016 |