|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MTHFR polymorphisms should be part of a comprehensive laboratory evaluation during hypercoagulable workup.
|
21482894 |
2011 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with thrombophilia and vasculopathy that may result in oral ulceration.
|
23665953 |
2014 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We used polymerase chain reaction measures for thrombophilia (factor V Leiden, prothrombin, C677T MTHFR, platelet glycoprotein PlA1/A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G).
|
18160589 |
2008 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations.
|
30819996 |
2019 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Interpretation These results suggest that the MTHFR C677T-mutant genetically predisposes its carriers to SVT which may contribute to hypercoagulation in pre-existing varicose vein disease.
|
20881312 |
2011 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects.
|
25977387 |
2016 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia?
|
15821810 |
2005 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A postmortem genetic testing for common mutations resulting in thrombophilia should be performed in all individuals who die as a result of thrombosis, regardless of predisposing risk factors, to determine the true prevalence of mutations in these individuals, and to assess the true role of a certain mutation, such as heterozygote MTHFR C677T, in the pathogenesis of thrombosis.
|
25074331 |
2014 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several recent studies have analyzed a possible effect of thrombophilia risk factors such as factor V Leiden, the prothrombin variant (allele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS).
|
10739378 |
2000 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias.
|
17688607 |
2007 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C.
|
26135458 |
2016 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia.
|
22521752 |
2012 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of thrombophilia was, respectively: protein S deficiency (11.5% versus 5.5%), protein C deficiency (0.76% versus 1%), resistance to activated protein C (2.3% versus 3.5%), mutation in V Leiden factor (1.5% versus 2%), antithrombin III deficiency (0% versus 0%), lupus anticoagulant (0% versus 0.5%), anticardiolipin antibodies (3% versus 10%; P=0.01), hyperhomocysteinemia (31.5% versus 53.5%; P=0.0001), mutation of the MTHFR gene in homocigosis (10% versus 5%), and heterocigosis (27.6% versus 41.9%; P=0.01).
|
16109904 |
2005 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
While it is important to consider that milder forms of pyridoxine-responsive classical homocystinuria will be detected only by tHcy, we suggest that routine testing of MTHFR c.677C>T genotype as part of a thrombophilia evaluation in children with incident thromboembolism is not warranted until larger studies have been performed in order to establish or refute a link between MTHFR and adverse outcomes.
|
23866722 |
2013 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of these, 49 (64.4%) women were found to have one or more thrombophilias and/or autoimmune antibodies, and 33 (43.4%) women were found to have a MTHFR polymorphism and/or HHC.
|
14691342 |
2004 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on the hypothesis that an inherited predilection to hypercoagulability may predispose to HSP or may mark those who develop acute clinical manifestations, we evaluated the possible roles of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A (Leiden), and prothrombin gene G20210A polymorphisms in patients with HSP.
|
16791607 |
2006 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Over 50 unselected women with maternal venous thromboembolism were screened for the prothrombin 20210 G-->A and MTHFR C677T mutations, in addition to screening for other thrombophilias.
|
10759281 |
2000 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We concluded that, in Taiwanese Chinese, methylenetetrahydrofolate reductase C677T mutation is a common genetic mutation, but T/T homozygote is not a significant risk factor for venous thrombophilia.
|
10680639 |
2000 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Placenta slides of 65 IUFDs with known maternal thrombophilia test results (compound MTHFR C677T and A1298C heterozygosity, n = 10; MTHFR 677TT homozygosity, n = 3; protein S deficiency, n = 0; factor V Leiden mutation, n = 2; prothrombin gene mutation G20210A, n = 1; lupus anticoagulant, n = 2; antiphospholipid syndrome, n = 1; MTHFR C677T heterozygosity, n = 5; MTHFR A1298C heterozygosity, n = 4; and MTHFR 1298CC homozygosity, n = 2) and of 30 livebirths with positive maternal thrombophilia test results (n = 5, 2, 0, 9, 2, 0, 2, 7, 2 and 1, respectively, for those thrombophilias) were microscopically examined for septation, fetal vessel thrombosis, intimal fibrin cushions, avascular villi, haemorrhagic endovasculitis and fibromuscular sclerosis.
|
22173239 |
2012 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to determine (1). whether the inherited thrombophilias (the factor V Leiden and prothrombin gene mutations and the methylenetetrahydrofolate reductase [C677T] polymorphism) are increased in women with "idiopathic" (normotensive) small-for-gestational-age pregnancies and/or in their babies and (2). whether fetal carriage of a thrombophilia is associated with abnormal umbilical Doppler studies.
|
12712097 |
2003 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The thermolabile variant (TT) of the methylenetetrahydrofolate reductase (MTHFR) gene, and homozygosity for the 4G allele of the promoter region of the plasminogen activator inhibitor-1 (PAI-1) are potential genetic polymorphisms that have not been consistently associated with increased risk of VT. A case-control study was performed on 192 consecutive unrelated patients referred for evaluation of thrombophilia because of VT and 200 healthy controls.
|
11738073 |
2001 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A subsequent magnetic resonance venography of his head revealed venous thrombosis, and other investigations revealed an elevated factor VIII level as well as a mutation at the MTHFR locus, consistent with an elevated risk for hypercoagulability.
|
19131586 |
2009 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate whether risk factors for placental abruption because of such thrombophilias (such as carriership of factor V Leiden (FVL), prothrombin G20210A gene mutation and homozygous MTHFR C677T) might be used as a predictor for placental abruption.
|
17627684 |
2007 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We developed a rapid and low-cost panel of three assays for visual genotyping of the three most common genetic risk factors in thrombophilia, namely, the single-point mutations in the FV (Leiden factor), FII and MTHFR genes.
|
20637588 |
2010 |