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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations.
|
30819996 |
2019 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have developed a multiplex single-base extension reaction assay that allows simultaneous analysis of 10 different mutations in thrombophilia- and folate-related genes (Factor V Leiden G1691A, Factor V H1299R, Factor II G20210A, Factor XIII V34L, PAI-I -675 4G/5G, FGB -455G/A, MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G).
|
22023244 |
2012 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
No significant difference in the prevalence of three genetic mutations associated with the increased risk of thrombophilia (Factor V Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677 T) was found in 100 infertile women with unexplained infertility when compared with 200 control fertile women without an infertility history.
|
19939360 |
2010 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Gain-of-function variants of genes encoding coagulation factor V (F5 G1691A) and prothrombin (F2 G20210A) cause hypercoagulability and are established risk factors for venous thrombosis.
|
20626623 |
2010 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis.
|
18796459 |
2009 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These polymorphisms confer a very mild hypercoagulable state as shown by the limited increased in basal D-dimers in mutated FV-G1691A populations and only a trend that does not reach statistical significance for FII-G20210A population.
|
19730248 |
2009 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Factor V Leiden (FVL) G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, the condition that might be related to infertility and recurrent spontaneous abortion (RSA).
|
16450127 |
2006 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs).
|
16138341 |
2005 |
|
rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thrombophilia due to mutations in genes encoding coagulation factor V (G1691A), prothrombin (G20210A), methylene-tetrahydrofolate reductase (C677T) and the presence of antiphospholipid antibodies was searched for.
|
12857558 |
2003 |
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rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Neither of the allele frequencies of genetic determinants for thrombophilia (coagulation factor V 1691G-->A (factor V Leiden) and factor II 20210G-->A polymorphisms) in the background population differed significantly from that in IBD patients.
|
11843038 |
2002 |
|
rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of three common point mutations seen in families with thrombophilia (1691G-->A in the coagulation factor V gene, 677C-->T in the methylenetetrahydrofolate reductase gene, and the 20210G-->A mutation in the prothrombin gene) could increase the risk for thrombosis in the child.
|
10822069 |
2000 |
|
rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The cause of the BCS still being unknown, in October 1996 we performed extensive laboratory investigations concerning states of thrombophilia and found moderately elevated IgG anticardiolipin antibodies (19.7 U/ml) and a resistance against activated protein C caused by heterozygosity for a point mutation of the factor V gene (1691G-->A; factor V Leiden).
|
10378363 |
1999 |
|
rs751377893
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently a point mutation (G1691A) in the coagulation factor V gene was shown to cause resistance for cleavage by activated protein C. The mutation is associated with an increased thrombotic risk and thus-far the most common genetic cause of thrombophilia.
|
8607109 |
1995 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We compared the incidence of cancer diagnosis during follow-up among cohort women positive for antiphospholipid antibodies (n=517), cohort women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n=279) and cohort women with negative thrombophilia screening results (n=796).
|
31101755 |
2020 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved.
|
28010922 |
2017 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We compared the frequencies of complications during a new pregnancy attempt among women carrying the F5 rs6025 or F2 rs1799963 polymorphism (n = 279; low-molecular-weight heparin [LMWH] treatment during pregnancy only in case of prior fetal death), and women with negative thrombophilia screening results as control women (n = 796; no treatment).
|
24200686 |
2014 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A point mutation in the coagulation factor V gene (G1691-->A, resulting in an Arg506-->Gln amino acid substitution in the factor V molecule [factor VLEIDEN], leading to activated protein C resistance) is the most common genetic risk factor for familial thrombophilia.
|
9974416 |
1999 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants.
|
9577282 |
1998 |
|
rs6025
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We recently reported a high prevalence of the FV Leiden mutation (R506Q, responsible for Activated Protein C resistance) among symptomatic protein C deficient probands (19%), and the involvement of the FV Leiden mutation in the expression of thrombophilia in six protein C deficient families.
|
8584987 |
1995 |
|
rs1312546120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RESULTS In this study, we have observed statistically meaningful data (P<0.01) related to the relationship between RPL and thrombophilia-associated gene polymorphisms such as heterozygous factor V Leiden H1299R, heterozygous prothrombin G20210A, PAI-1 4G/5G, and PAI-1 4G/4G.
|
29932168 |
2018 |
|
rs1164821473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V.
|
28889200 |
2017 |