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Items: 1 to 20 of 114

1.

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ.

Lancet. 1995 Oct 21;346(8982):1070-1.

PMID:
7564788
2.

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

van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, Trijbels FJ, Eskes TK, Mariman EC, den Heyer M, Blom HJ.

J Mol Med (Berl). 1996 Nov;74(11):691-4. Erratum in: J Mol Med 1997 Jan;75(1):69.

PMID:
8956155
4.

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R.

Am J Med Genet. 1999 May 21;84(2):151-7.

PMID:
10323741
5.

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R.

Mol Genet Metab. 1999 Aug;67(4):317-23.

PMID:
10444342
6.

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population.

Arbour L, Christensen B, Delormier T, Platt R, Gilfix B, Forbes P, Kovitch I, Morel J, Rozen R.

Int J Circumpolar Health. 2002 Nov;61(4):341-51.

PMID:
12546192
7.

Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study.

Martínez de Villarreal LE, Delgado-Enciso I, Valdéz-Leal R, Ortíz-López R, Rojas-Martínez A, Limón-Benavides C, Sánchez-Peña MA, Ancer-Rodríguez J, Barrera-Saldaña HA, Villarreal-Pérez JZ.

Arch Med Res. 2001 Jul-Aug;32(4):277-82.

PMID:
11440783
8.

Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.

Volcik KA, Blanton SH, Tyerman GH, Jong ST, Rott EJ, Page TZ, Romaine NK, Northrup H.

Am J Med Genet. 2000 Nov 6;95(1):21-7.

PMID:
11074490
9.

Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population.

Koch MC, Stegmann K, Ziegler A, Schröter B, Ermert A.

Eur J Pediatr. 1998 Jun;157(6):487-92.

PMID:
9667406
10.

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P.

J Med Genet. 1998 Dec;35(12):1009-13.

11.

Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects.

Volcik KA, Shaw GM, Lammer EJ, Zhu H, Finnell RH.

Birth Defects Res A Clin Mol Teratol. 2003 Mar;67(3):154-7.

PMID:
12797455
12.

The 677C-->T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease.

Verhoef P, Kok FJ, Kluijtmans LA, Blom HJ, Refsum H, Ueland PM, Kruyssen DA.

Atherosclerosis. 1997 Jul 11;132(1):105-13.

PMID:
9247365
13.

Altered folate and vitamin B12 metabolism in families with spina bifida offspring.

van der Put NM, Thomas CM, Eskes TK, Trijbels FJ, Steegers-Theunissen RP, Mariman EC, De Graaf-Hess A, Smeitink JA, Blom HJ.

QJM. 1997 Aug;90(8):505-10.

PMID:
9327028
14.

Spina bifida and folate-related genes: a study of gene-gene interactions.

de Franchis R, Botto LD, Sebastio G, Ricci R, Iolascon A, Capra V, Andria G, Mastroiacovo P.

Genet Med. 2002 May-Jun;4(3):126-30.

PMID:
12180146
15.

Methylenetetrahydrofolate reductase 677C-->T genotype modulates homocysteine responses to a folate-rich diet or a low-dose folic acid supplement: a randomized controlled trial.

Ashfield-Watt PA, Pullin CH, Whiting JM, Clark ZE, Moat SJ, Newcombe RG, Burr ML, Lewis MJ, Powers HJ, McDowell IF.

Am J Clin Nutr. 2002 Jul;76(1):180-6.

16.

Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida.

Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH.

Am J Med Genet. 2002 Feb 15;108(1):1-6. Erratum in: Am J Med Genet 2002 Dec 15;113(4):392.

PMID:
11857541
18.

5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine.

Castro R, Rivera I, Ravasco P, Jakobs C, Blom HJ, Camilo ME, de Almeida IT.

QJM. 2003 Apr;96(4):297-303.

PMID:
12651974
19.

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

Weisberg I, Tran P, Christensen B, Sibani S, Rozen R.

Mol Genet Metab. 1998 Jul;64(3):169-72.

PMID:
9719624
20.

C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: should Japanese women undergo gene screening before pregnancy?

Kondo A, Fukuda H, Matsuo T, Shinozaki K, Okai I.

Congenit Anom (Kyoto). 2014 Feb;54(1):30-4. doi: 10.1111/cga.12026.

PMID:
24588777

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