|
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 |
The laboratory tests revealed high D-dimers, and positive IgG anti-cardiolipin and anti-beta2 glycoproteins I antibodies, whereas the genetic profile for thrombophilia revealed heterozygote mutation in MTHFR C677T and A1298C genes.
|
31725629 |
2019 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism of MTHFR (677C > T and 1298A > C), PAI1 (-675 5G/4G and -844A > G), and F2 (20210G > A), and the F5 Leiden mutation, as well as biochemical parameters for hypercoagulability, were analysed.
|
31389788 |
2019 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics.
|
31187948 |
2019 |
|
Thrombophilia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Other biomarkers reviewed, which did not consistently demonstrate significant associations with VTE included prothrombin fragments F1 + 2, factor VIII, protein C, protein S, von Willebrand antigen and activity, antithrombin, thrombin antithrombin complex, antiphospholopid antibody, plasminogen activator inhibitor, tissue factor pathway inhibitor and several variants associated with known hypercoagulable states (factor V Leiden, prothrombin gene variant, methylenetetrahydrofolate reductase variant).
|
29407626 |
2018 |
|
Thrombophilia
|
0.400 |
Biomarker
|
disease |
BEFREE |
A positive association between other inherited thrombophilias (homozygous 20210 prothrombin gene mutation and homozygous factor V Leiden) and IUGR of unknown cause was also found, P = .096, OR 6.106 (CI 95% 0.72-51.30), although it was not statistically significant (P = .096, OR = 6.106, CI 95% 0.72-51.30).Our results indicate that PAI-1 and MTHFR thrombophilias represent risk factors for IUGR of otherwise unidentified cause.
|
30313110 |
2018 |
|
Thrombophilia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.).
|
27855570 |
2017 |
|
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 |
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 |
This study assessed gene mutations (factor V Leiden, prothrombin G20210A, plasminogen activator inhibitor, methylenetetrahydrofolate reductase) and serologic thrombophilias (high levels of factors VIII and XI, homocysteine, anticardiolipin immunoglobulin G and immunoglobulin M antibodies, and lupus anticoagulant; low antigenic protein C, S, and free S; and antithrombin III deficiency).
|
27459142 |
2016 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To identify inherited factors: Protein C (PC), protein S (PS), antithrombin (AT), plasminogen (Plg), the activated PC resistance (APCR), prothrombin (PT) mutation G20210 A (PTG20210 A) and methylenetetrahydrofolate reductase C677 T polymorphism (MTHFR C677 T), as well as acquired-risk factors such as: diabetes mellitus, surgeries, smoking, obesity, hypertension, trauma, alcoholism, family history; and their association, in Mexican patients with diagnostic of thrombophilia.
|
26315791 |
2015 |
|
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 |
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 |
Pathogenic predisposing avenues increasing the hypercoagulability in celiac disease are multiple: nutritional deficiencies (B12, folate, and vitamin K), genetic predisposition (MTHFR mutations), thrombophilic autoantibodies, hyperhomocysinemia, endothelial dysfunction and platelet abnormalities.
|
25149392 |
2014 |
|
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 |
There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.
|
23288205 |
2013 |
|
Thrombophilia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, this mini-review aims to address a comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR) and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias.
|
22512572 |
2012 |
|
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 |
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 |
MTHFR polymorphisms should be part of a comprehensive laboratory evaluation during hypercoagulable workup.
|
21482894 |
2011 |
|
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 |
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 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
|
19940469 |
2010 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
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 |
|
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 |