PubMed (cited) for id: 236250

Year	Number of Results
1972	1
1975	1
1976	1
1977	3
1981	1
1983	1
1984	1
1985	2
1988	2
1991	2
1992	1
1993	1
1994	1
1995	3
1996	6
1997	5
1998	1
1999	1
2000	2
2001	5
2002	1
2007	1
2008	1
2014	1
2024	0

1

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E. Cappuccio G, et al. Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591. Neurology. 2014. PMID: 25024447 No abstract available.

2

Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.

Jakubowski H, Boers GH, Strauss KA. Jakubowski H, et al. FASEB J. 2008 Dec;22(12):4071-6. doi: 10.1096/fj.08-112086. Epub 2008 Aug 15. FASEB J. 2008. PMID: 18708589

3

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH. Strauss KA, et al. Mol Genet Metab. 2007 Jun;91(2):165-75. doi: 10.1016/j.ymgme.2007.02.012. Epub 2007 Apr 3. Mol Genet Metab. 2007. PMID: 17409006

4

Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos.

Zetterberg H, Regland B, Palmér M, Ricksten A, Palmqvist L, Rymo L, Arvanitis DA, Spandidos DA, Blennow K. Zetterberg H, et al. Eur J Hum Genet. 2002 Feb;10(2):113-8. doi: 10.1038/sj.ejhg.5200767. Eur J Hum Genet. 2002. PMID: 11938441

5

Genetic diversity and disease: opportunities and challenge.

Scott JM. Scott JM. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):14754-6. doi: 10.1073/pnas.011601398. Proc Natl Acad Sci U S A. 2001. PMID: 11752418 Free PMC article. No abstract available.

6

Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.

Yamada K, Chen Z, Rozen R, Matthews RG. Yamada K, et al. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):14853-8. doi: 10.1073/pnas.261469998. Epub 2001 Dec 11. Proc Natl Acad Sci U S A. 2001. PMID: 11742092 Free PMC article.

7

Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia.

Wiemels JL, Smith RN, Taylor GM, Eden OB, Alexander FE, Greaves MF; United Kingdom Childhood Cancer Study investigators. Wiemels JL, et al. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4004-9. doi: 10.1073/pnas.061408298. Epub 2001 Mar 13. Proc Natl Acad Sci U S A. 2001. PMID: 11274424 Free PMC article.

8

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.

Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SW, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James SJ, Rozen R. Chen Z, et al. Hum Mol Genet. 2001 Mar 1;10(5):433-43. doi: 10.1093/hmg/10.5.433. Hum Mol Genet. 2001. PMID: 11181567

9

C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?

Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Stabellini G, Bisceglia L, Gombos F, Tognon M. Martinelli M, et al. Am J Med Genet. 2001 Feb 1;98(4):357-60. doi: 10.1002/1096-8628(20010201)98:4<357::aid-ajmg1108>3.0.co;2-f. Am J Med Genet. 2001. PMID: 11170082

10

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

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