|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The possibility of thrombophilia was investigated and during the genetic investigation it was discovered that he was heterozygous for the mutations of factor V, G1691A-Leiden, A4070G and homozygous for the MTHFR C677T mutation.
|
17295258 |
2007 |
|
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 |
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.
|
19940469 |
2010 |
|
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 |
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 |
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
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T mutations was slightly but insignificantly higher in beta-TM patients than controls. beta-TM is a chronic hypercoagulable condition independent of predisposing genetic factors.
|
19710606 |
2009 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
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 |
GeneticVariation
|
disease |
BEFREE |
Individuals containing double variant MTHFR mutations on one allele (cis) cannot be distinguished between compound heterozygotes (trans) for 677CT and 1298AC mutations in routine clinical testing, a genotype associated with thrombophilia.
|
15834246 |
2005 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Screening for risk factors for inherited thrombophilia with only polymorphisms for factor V von Leiden, factor II prothrombin and MTHFR may be missing the more prevalent identifiers of jeopardy.
|
18803625 |
2008 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
After confirming clinically suspected thromboembolism with suitable imaging methods, pediatric patients should be screened for common gene mutations (factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes), rare genetic deficiencies (protein C, protein S, antithrombin, and plasminogen), and new candidates for genetic thrombophilia causing elevated levels of lipoprotein(a), and homocysteine, and probable genetic risk factors (elevations in fibrinogen, factor IX, and factor VIIIC, and decreases in factor XII).
|
12172465 |
2002 |
|
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 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, we found that the VV genotype of the MTHFR gene is a risk factor for DVT only when combined with the predisposition of thrombophilia.
|
10706928 |
2000 |
|
Thrombophilia
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
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 |
GeneticVariation
|
disease |
BEFREE |
While factor V Leiden mutation was more common in women with pregnancy loss (25% vs. 7.6%), factor II G20210A and homozygosity for MTHFR C677T contributed to pregnancy loss only in the presence of other thrombophilia.
|
11821094 |
2002 |
|
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 |
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 |
The observation that polymorphism for the cytosine to thymine mutation at nucleotide 677 in the gene encoding for methylenetetrahydrofolate reductase is associated with repeated early fetal losses rather than with anembryonic gestations strengthens the argument for the role of hypercoagulability and abnormal uteroplacental vasculature in recurrent spontaneous abortion.
|
10411807 |
1999 |