Genetic Predisposition to Hyperhomocysteinemia: Deficiency of Methylenetetrahydrofolate Reductase (MTHFR)

A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease

1995 • 3,645 citations

Relation Between Folate Status, a Common Mutation in Methylenetetrahydrofolate Reductase, and Plasma Homocysteine Concentrations

1996 • 1,423 citations

Disorders of transsulfuration

1989 • 1,053 citations

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1995 • 870 citations

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

1996 • 670 citations

Homocysteine metabolism in pregnancies complicated by neural-tube defects

1995 • 641 citations

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1991 • 615 citations

A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.

1996 • 525 citations

Methylenetetrahydrofolate Reductase Polymorphism, Plasma Folate, Homocysteine, and Risk of Myocardial Infarction in US Physicians

1996 • 496 citations

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

1995 • 421 citations

Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?

1994 • 402 citations

The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia

1996 • 318 citations

A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

1995 • 314 citations

Coexistence of Hereditary Homocystinuria and Factor V Leiden — Effect on Thrombosis

1996 • 266 citations

Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study.

1996 • 263 citations

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

1995 • 263 citations

Homocysteine and Risk of Premature Coronary Heart Disease

1996 • 242 citations

Correlation of a Common Mutation in the Methylenetetrahydrofolate Reductase Gene With Plasma Homocysteine in Patients With Premature Coronary Artery Disease

1997 • 234 citations

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

1996 • 224 citations

Inherited disorders of folate transport and metabolism

1995 • 201 citations

Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring

1996 • 154 citations

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

1996 • 147 citations

Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis.

1984 • 61 citations

The methylenetetrahydrofolate reductase (Mthfr) gene maps to distal mouse Chromosome 4

1996 • 16 citations