D'Amato N, Correale M, D'Agostino C. Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation, Rev Esp Cardiol ;63:1366....
Contraception- related deep venous thrombosis and pulmonary embolism in a 17-year-old girl heterozygous for factor V leiden, prothrombin G20210A mutation, MTHFR C677T and homozygous for PAI-1 mutation: report of a family with multiple genetic risk factors and review of the literature. ...
Promoters of genes MTHFR from patients with hyperhomocysteinemia and PTEN from patients with malignant and benign endometrial and ovarian tumors of the patients with a heterozygous C677T mutation in the MTHFR gene, although a moderate hyperhomocysteinemia is usually associated with homozygous mutation....
Mutation analysis to confirm the carrier status was performed for all participants, and all participants MTHFR genotyping Out of these 88 Tao inhabitants, including 48 p.D47E carriers and 40 non-carriers, 3 p.D47E carriers and 2 non-carriers were found to be heterozygous for the MTHFR C...
2015: Renal transplantation experience in a patient with factor V Leiden homozygous, MTHFR C677T heterozygous, and PAi heterozygous mutation Pediatric Transplantation 19(5): E126-E129 Beneitez, D.; Carrera, Aícia.; Duran-Suárez, J.Ramón.; Paz, V.; León, A.; García Talavera, J. 2006...
The article discusses two cases where the Taqman system failed to accurately genotype the MTHFR C677T polymorphism due to a rare GA heterozygous mutation at the MTHFR 679 locus. The study highlights the challenges in genotyping methodologies and emphasizes the need for adaptability in clinical ...
Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation. Rev Esp Cardiol 2010;63: 1366.D'Amato N, Correale M, D'Agostino C. Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation. Rev Esp ...
8 Martinez Saguer I, Escuriola Ettingshausen C. Successful management of hereditary angioedema during pregnancy in a patient with heterozygous MTHFR mutation.doi:10.1111/dth.14541Maddalena NapolitanoMaria VastarellaGabriella FabbrociniEleonora Cinelli...
Investigation of subsequent fetal losses revealed homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism associated both with fetal loss and with osteoporosis (OP). Because her neonatal unilateral blindness and OP were suggestive of loss-of-function mutation(s) in the gene ...
Acquired Thrombotic Thrombocytopenic Purpura (TTP) in a patient with heterozygous MTHFR C677T mutation and hyperhomocysteinemia – a case reportAcquired Thrombotic Thrombocytopenic PurpuraMTHFR C677T mutationdoi:10.1016/j.achaem.2015.07.112elsevier