|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
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 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation).
|
29299826 |
2018 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation).
|
29299826 |
2018 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
IVF outcomes are not associated with FVL, PGM, MTHFR (C677T), MTHFR (A1298C), and APCR mutation in inherited thrombophilias.
|
27216921 |
2016 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C.
|
26135458 |
2016 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The thrombophilia workup included methylenetetrahydrofolate reductase (MTHFR) C677T, antiphospholipid antibodies, protein C, protein S, antithrombin, factor VIII, factor V Leiden, prothrombin mutation G20210A, activated protein C resistance, JAK2 V617F and homocysteine.Ninety-five individuals were tested.
|
26825628 |
2016 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C.
|
26135458 |
2016 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia.
|
22521752 |
2012 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia.
|
22521752 |
2012 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
|
19940469 |
2010 |
|
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 |
|
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 |
|
rs899127658
|
|
|
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 |
|
rs899127658
|
|
|
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 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G).
|
18796459 |
2009 |
|
rs1188383936
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A literature review identified case-control and cohort studies evaluating the relationship between IUGR and the following thrombophilias: homozygous or heterozygous factor V Leiden or prothrombin (PT) G20210A mutations and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation.
|
19461414 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G).
|
18796459 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our study supports the association between MTHFR C677T and patients with early RPL among north Indian Rajputs and strengthens the notion that thrombophilia plays a role in this clinical entity.
|
19839754 |
2009 |