rs104893634
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs1207534366
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908425
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554122802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs753317536
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs797045412
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report three patients with cerebral vein thrombosis (CVT) in which the only risk factor we were able to identify was increased blood homocysteine levels and the C677T polymorphism in both alleles of the methylene tetrahydrofolate reductase MTHFR gene.
|
12522678 |
2002 |
rs104893634
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
|
15146389 |
2004 |
rs104893634
|
|
|
0.810 |
GeneticVariation |
BEFREE |
HOXD10 M319K mutation in a family with isolated congenital vertical talus.
|
16450407 |
2006 |
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report a case of cerebral venous thrombosis (CVT) due to tyrotoxicosis in a patient with methylenetetrahydro-folate-reductase (MTHFR) gene polymorphism C677T, (genotype 677TT), in which discontinuation of intravenous heparin was followed by clinical and radiological worsening despite warfarin treatment.
|
18941937 |
2008 |
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
JAK2 V617F was positive in four out of seven patients with PVT and in one CVT patient.
|
21893442 |
2011 |
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Statistically significant associations with CVT were found for factor V Leiden/G1691A (OR=2.40; 95% CI, 1.75 to 3.30; P<0.00001) and prothrombin/G20210A (OR=5.48; 95% CI, 3.88 to 7.74; P<0.00001).
|
21350198 |
2011 |
rs899127658
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Statistically significant associations with CVT were found for factor V Leiden/G1691A (OR=2.40; 95% CI, 1.75 to 3.30; P<0.00001) and prothrombin/G20210A (OR=5.48; 95% CI, 3.88 to 7.74; P<0.00001).
|
21350198 |
2011 |
rs368927897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistically significant associations with CVT were found for factor V Leiden/G1691A (OR=2.40; 95% CI, 1.75 to 3.30; P<0.00001) and prothrombin/G20210A (OR=5.48; 95% CI, 3.88 to 7.74; P<0.00001).
|
21350198 |
2011 |
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, neither the FII-G20210 (p=0.536) nor the homozygous MTHFR-C677T genotype (p=0.325) variant contributed to the risk of CVT in these Tunisian patients.
|
22721898 |
2012 |
rs751377893
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients.
|
22721898 |
2012 |
rs899127658
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients.
|
22721898 |
2012 |
rs1188383936
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, neither the FII-G20210 (p=0.536) nor the homozygous MTHFR-C677T genotype (p=0.325) variant contributed to the risk of CVT in these Tunisian patients.
|
22721898 |
2012 |
rs201058276
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that the FVII R353Q polymorphism is not associated with increased risk for CVT occurring during the puerperal period in Indian women.
|
22136731 |
2012 |
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To our knowledge, there are no previous reports assessing the correlation between the MTHFR A1298C variant and CVT.
|
23314385 |
2013 |
rs1926447
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases.
|
24252537 |
2014 |
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059).
|
25042466 |
2014 |
rs3742264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data indicate that the GTC haplotype for TAFI 505G>A/1040C>T/+1542C>G SNPs increased the risk of CVT in comparison to controls and VTE cases.
|
24252537 |
2014 |
rs189468720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8).
|
26729820 |
2016 |
rs77375493
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |