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Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Goyette P, Christensen B, Rosenblatt DS, Rozen R. Goyette P, et al. Am J Hum Genet. 1996 Dec;59(6):1268-75. Am J Hum Genet. 1996. PMID: 8940272 Free PMC article.
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
Goyette P, Rozen R. Goyette P, et al. Hum Mutat. 2000;16(2):132-8. doi: 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T. Hum Mutat. 2000. PMID: 10923034
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene.
Goyette P, Rosenblatt D, Rozen R. Goyette P, et al. J Inherit Metab Dis. 1998 Aug;21(6):690-1. doi: 10.1023/a:1005457206323. J Inherit Metab Dis. 1998. PMID: 9762613 No abstract available.
Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR).
Goyette P, Pai A, Milos R, Frosst P, Tran P, Chen Z, Chan M, Rozen R. Goyette P, et al. Mamm Genome. 1998 Aug;9(8):652-6. doi: 10.1007/s003359900838. Mamm Genome. 1998. PMID: 9680386
Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.
Christensen B, Frosst P, Lussier-Cacan S, Selhub J, Goyette P, Rosenblatt DS, Genest J Jr, Rozen R. Christensen B, et al. Among authors: goyette p. Arterioscler Thromb Vasc Biol. 1997 Mar;17(3):569-73. doi: 10.1161/01.atv.17.3.569. Arterioscler Thromb Vasc Biol. 1997. PMID: 9102178
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA. Leclerc D, et al. Among authors: goyette p. Hum Mol Genet. 1996 Dec;5(12):1867-74. doi: 10.1093/hmg/5.12.1867. Hum Mol Genet. 1996. PMID: 8968737
Human methylenetetrahydrofolate reductase: isolation of cDNA mapping and mutation identification.
Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R. Goyette P, et al. Nat Genet. 1994 Aug;7(4):551. Nat Genet. 1994. PMID: 7951330 No abstract available.
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R. Goyette P, et al. Nat Genet. 1994 Jun;7(2):195-200. doi: 10.1038/ng0694-195. Nat Genet. 1994. PMID: 7920641
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.
Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, et al. Frosst P, et al. Among authors: goyette p. Nat Genet. 1995 May;10(1):111-3. doi: 10.1038/ng0595-111. Nat Genet. 1995. PMID: 7647779
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
Goyette P, Frosst P, Rosenblatt DS, Rozen R. Goyette P, et al. Am J Hum Genet. 1995 May;56(5):1052-9. Am J Hum Genet. 1995. PMID: 7726158 Free PMC article.
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