|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
High risk of thrombosis recurrence in patients with homozygous and compound heterozygous factor V R506Q (Factor V Leiden) and prothrombin G20210A.
|
31472339 |
2019 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R506Q Factor V-Leiden mutation is now usually characterized using molecular biology, and this technique tends to become the first intention assay for characterization of patients.
|
29162399 |
2017 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genotypes of factor V R506Q (factor V Leiden), prothrombin 20210G>A, fibrinogen beta -455G> A, factor XII (FXII) 46C>T, and ITGA2 807C>T (platelet glycoprotein Ia [GPIa] 807C>T) and ITGB3 L59P (platelet GPIIIa PlA1/PlA2) polymorphisms.
|
16157382 |
2005 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation.
|
16363237 |
2005 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Factor V Leiden (FVL) R506Q and Prothrombin G20210A are clinically important genetic mutations associated with increased susceptibility to venous thrombosis.
|
12745655 |
2003 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been reported to be associated with recurrent pregnancy loss.
|
12042290 |
2002 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The authors have identified heterozygosity for the recently described prothrombin gene 20210 G-->A variation and Factor V Arg 506 to Gln (Factor V Leiden) mutation in a patient with Buerger's disease.
|
10826859 |
2000 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
DNA investigation showed a double heterozygous defect: the Arg506Gln mutation in the factor V gene (factor V Leiden) and G20210A nucleotide substitution in the prothrombin gene.
|
11020010 |
2000 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Activated protein C (APC) resistance, defined as a low APC ratio, is associated with the factor V mutation R506Q (factor V Leiden).
|
10404768 |
1999 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden).
|
10556190 |
1999 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
We evaluated 53 children with NS and 41 paediatric controls for prevalence of the factor V mutation Arg506-->Gln (factor V Leiden), the prothrombin variant (20210G-->A), and homozygosity for Ala677-->Val in the methylenetetrahydrofolate reductase gene (MTHFR).
|
9835442 |
1998 |
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study's objective was to evaluate the association between venous thromboembolism during pregnancy and the postpartum period and the factor V Arg 506 Gln (factor V Leiden), the prothrombin G20210A, and methylenetetrahydrofolate reductase C677T polymorphisms.
|
9822524 |
1998 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
We developed a genome-wide polygenic risk score for venous thromboembolism that identifies 5% of the population at an equivalent incident venous thromboembolism risk to carriers of the established factor V Leiden p.R506Q and prothrombin G20210A mutations.
|
31676865 |
2019 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction.
|
30439355 |
2019 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
Factor V leiden G1691A/R506Q (FVL), prothrombin G20210A (FII) and methylenetetrahydrofolate reductase (MTHFR) C677T are related genetic risk factors for venous thromboembolism.
|
22528331 |
2012 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
In non-oral contraceptive users the risk of venous thromboembolism was significantly increased in carriers of R506Q but not in those with the G20210A mutation.
|
12069454 |
2002 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
The determination of the factor II: G20210A variant in index patients carrying a factor V: R506Q mutation and, if present, in family members may help to identify individuals who are at high risk for VTE.
|
11737249 |
2001 |
|
Venous Thromboembolism
|
|
0.060 |
GeneticVariation
|
BEFREE |
Because both factor V R506Q</span> and the HR2 haplotype are very frequent, the effect of their coinheritance on the risk of venous thromboembolism might represent a clinically relevant issue, and screening for HR2 in carriers of factor V R506Q should be considered.
|
10556190 |
1999 |
|
Thrombophilia
|
|
0.020 |
GeneticVariation
|
BEFREE |
With the aim of establishing whether the HR2 haplotype in factor V affects the risk of venous thromboembolism, a retrospective multicenter cohort study was performed in 810 family members identified through 174 probands who suffered from at least 1 episode of deep vein thrombosis and/or pulmonary embolism and had an inherited defect associated with thrombophilia (antithrombin, protein C, or protein S deficiency; factor V R506Q or prothrombin G20210A).
|
10556190 |
1999 |
|
Thrombophilia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We chose to evaluate whether or not a state of biochemical hypercoagulability was present in 74 individuals (69 heterozygotes and 5 homozygotes) resistant to activated protein C (APC) due to the Arg506 --> Gln mutation in the factor V gene.
|
8725708 |
1996 |
|
Myocardial Ischemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Prothrombin G20210A heterozygosity alone and in combination with Factor V Leiden R506Q heterozygosity predicts 1.5 and 6.0 fold risk of IHD compared to non-carriers.
|
19524925 |
2010 |
|
Peripheral Arterial Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
We evaluated the presence of G20210A prothrombin (FII) and R506Q FV Leiden mutations, antithrombin, protein C and S deficiencies in 176 patients with PAD at Fontaine's stage II and in 106 patients with critical limb ischaemia (Fontaine's stage III/IV) consecutively referred to our unit.
|
19356951 |
2009 |
|
Limb ischemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We evaluated the presence of G20210A prothrombin (FII) and R506Q FV Leiden mutations, antithrombin, protein C and S deficiencies in 176 patients with PAD at Fontaine's stage II and in 106 patients with critical limb ischaemia (Fontaine's stage III/IV) consecutively referred to our unit.
|
19356951 |
2009 |
|
Isolated thrombocytopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sixty-three HIT-patients with isolated thrombocytopenia and 79 HIT-patients with HIT-related TECs were genotyped for GPIIb-IIIa polymorphisms (HPA-1, HPA-3), GPIa-IIa polymorphisms (HPA-5, GPIaC807T), GPIb-IX-V polymorphisms (HPA-2, Kozak-5, VNTR), and clotting factor polymorphisms (FV-Leiden R506Q, prothrombin PT-G20210A and MTHFR C677T).
|
12724616 |
2003 |
|
Cooley's anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recurrent thromboembolism in a patient with beta-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations.
|
12138375 |
2002 |