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rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report the case of a male newborn with left RVT and associated homozygosity for both factor V Leiden (G1691A) and methylenetetrahydrofolate reductase C677T mutations in addition to elevated serum lipoprotein (a).The patient was treated with heparin.
|
19542880 |
2009 |
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rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis.
|
9490685 |
1998 |
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rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial.
|
16651869 |
2006 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Both, MTHFR C677T and FVL were not found to be significantly more prevalent in patients than controls as a whole.
|
19839754 |
2009 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Factor V Leiden mutation (G1691A), and mutations in the prothrombin (G20210A) and 5,10-methylenetetrahydrofolate reductase (C677T) genes are common hereditary risk factors associated with venous thrombosis.
|
12490067 |
2002 |
|
rs1217691063
|
|
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 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
All the five children were found to be heterozygote for the C677T MTHFR mutation and a child presented also heterozygosity for factor V Leiden mutation.
|
22193714 |
2012 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
6.9% of the patients were heterozygous for FVL, 5.7% were heterozygous for the prothrombin mutation, and 9.7% were homozygous for the MTHFR C677T mutation was detected in 9.7% of patients.
|
12115343 |
2002 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Factor V Leiden (G1691A), the prothrombin 3'-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): a single genetic test genotypes all three loci--determination of frequencies in the S. Wales population of the UK.
|
9609227 |
1998 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the MTHFR gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured.
|
22098125 |
2012 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the present study, we have focused on the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T, dihydrofolate reductase (DHFR) 19-bp deletion within intron 1, factor V Leiden (FVL), and prothrombin (PT) G20210A polymorphisms in cancer patients with and without VTE.
|
18682947 |
2009 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %).
|
26891731 |
2016 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth.
|
23795816 |
2013 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788).
|
25699610 |
2015 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The allele frequencies of FVL (2%), PTG (2%) and MTHFR C677T (31%) were similar between cases and controls.
|
16431900 |
2006 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The odds ratio for stroke was not significantly increased in carriers of the prothrombin mutation (OR 1.2; 95% CI 0.1-10.7), FVL (OR 2.5; 95% CI 0.5-13.5), or the C677T mutation (OR 1.7; 95% CI 0.6-4.5).
|
10365738 |
1999 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
From 2008 to 2017, all 26 consecutive newborn infants ≥35 weeks of gestation diagnosed with neonatal CSVT, and their mothers, were tested for factor V Leiden (FV) G1691A, FII G20210A, and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations.
|
31025572 |
2019 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G→A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study.
|
22924497 |
2012 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL.
|
22047507 |
2012 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Antiphospholipid antibodies, factor V Leiden (FVL) mutation, prothrombin mutation G20210A (PTHRA20210) and mutation TT677 of methylenetetrahydrofolate reductase (MTHFR C677T) were evaluated in all patients.
|
12170404 |
2002 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
While factor V Leiden mutation was more common in women with pregnancy loss (25% vs. 7.6%), factor II G20210A and homozygosity for MTHFR C677T contributed to pregnancy loss only in the presence of other thrombophilia.
|
11821094 |
2002 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
To investigate the potential perinatal effects of Factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase C677T polymorphism in preeclamptic women.
|
10877984 |
2000 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
To investigate whether the factor V Leiden mutation (FVL), the prothrombin gene G20210A variant or the methylenetetrahydrofolate reductase (MTHFR) C677T genotype are risk factors for central nervous system (CNS) thrombosis or intraventricular hemorrhage (IVH) in neonates.
|
12477269 |
2002 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Maternal, paternal, and fetal DNA were genotyped for the methylenetetrahydrofolate reductase (MTHFR) C677T and Factor V Leiden (FVL) G1691A SNPs.
|
15097012 |
2004 |
|
rs1217691063
|
|
Factor V Leiden mutation
|
|
0.100 |
GeneticVariation
|
BEFREE |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included.
|
17003923 |
2006 |