|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation).
|
29299826 |
2018 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
|
19940469 |
2010 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
MTHFR C677T and hyperhomocysteinemia were more prevalent than other thrombophilias.
|
17688607 |
2007 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thrombophilia workup includes the level of homocysteine and other related parameters such as: vitamin B(12), folic acid, and methylenetetrahydrofolate reductase (MTHFR) C677T genotype.
|
17043779 |
2007 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
The main inherited thrombophilias (antithrombin deficiency, protein C and S deficiency, FVL, the prothrombin gene variant, and MTHFR C677T homozygotes) have a combined prevalence in Western European populations of 15% to 20%.
|
16962918 |
2006 |
|
Thrombophilia
|
|
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 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
In order to estimate the frequency of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in Jordanian thrombotic patients, we studied 594 patients admitted to the King Hussein Medical Center for thrombophilia assessment.
|
16093732 |
2005 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Single-nucleotide polymorphisms (SNPs) within the genes of factor V (FV) (G1691A; exon 10), prothrombin (FII) (G20210A; 3'untranslated - region) and methylenetetrahydrofolate reductase (MTHFR) (C677T; exon 4) are associated with hypercoagulability, and systematic screening of individuals being at higher risk of thrombosis has been suggested.
|
16305681 |
2005 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
BEFREE |
The case with factor VIII of 160% had two other thrombophilias (compound MTHFR C677T-A1298C heterozygosity, resistance to activated protein C), and hypofibrinolytic high Lp(a).
|
16015408 |
2005 |
|
Thrombophilia
|
|
0.100 |
GeneticVariation
|
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 |