147 related articles for article (PubMed ID: 11916316)
1. Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.
Tonetti C; Amiel J; Munnich A; Zittoun J
J Inherit Metab Dis; 2001 Dec; 24(8):833-42. PubMed ID: 11916316
[TBL] [Abstract][Full Text] [Related]
2. Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family.
Tonetti C; Burtscher A; Bories D; Tulliez M; Zittoun J
Am J Med Genet; 2000 Apr; 91(5):363-7. PubMed ID: 10767000
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12651974
[TBL] [Abstract][Full Text] [Related]
4. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
Sibani S; Leclerc D; Weisberg IS; O'Ferrall E; Watkins D; Artigas C; Rosenblatt DS; Rozen R
Hum Mutat; 2003 May; 21(5):509-20. PubMed ID: 12673793
[TBL] [Abstract][Full Text] [Related]
5. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Sibani S; Christensen B; O'Ferrall E; Saadi I; Hiou-Tim F; Rosenblatt DS; Rozen R
Hum Mutat; 2000; 15(3):280-7. PubMed ID: 10679944
[TBL] [Abstract][Full Text] [Related]
6. Methionine synthase deficiency without megaloblastic anaemia.
Kvittingen EA; Spangen S; Lindemans J; Fowler B
Eur J Pediatr; 1997 Dec; 156(12):925-30. PubMed ID: 9453374
[TBL] [Abstract][Full Text] [Related]
7. Plasma homocysteine levels related to interactions between folate status and methylenetetrahydrofolate reductase: a study in 52 healthy subjects.
Zittoun J; Tonetti C; Bories D; Pignon JM; Tulliez M
Metabolism; 1998 Nov; 47(11):1413-8. PubMed ID: 9826223
[TBL] [Abstract][Full Text] [Related]
8. Anti-epileptic drug treatment in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T mutation of the methylenetetrahydrofolate reductase gene.
Vilaseca MA; Monrós E; Artuch R; Colomé C; Farré C; Valls C; Cardo E; Pineda M
Eur J Paediatr Neurol; 2000; 4(6):269-77. PubMed ID: 11277368
[TBL] [Abstract][Full Text] [Related]
9. Effect of MTHFR 677C>T on plasma total homocysteine levels in renal graft recipients.
Födinger M; Wölfl G; Fischer G; Rasoul-Rockenschaub S; Schmid R; Hörl WH; Sunder-Plassmann G
Kidney Int; 1999 Mar; 55(3):1072-80. PubMed ID: 10027946
[TBL] [Abstract][Full Text] [Related]
10. 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
Am J Hum Genet; 1995 May; 56(5):1052-9. PubMed ID: 7726158
[TBL] [Abstract][Full Text] [Related]
11. Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Fattal-Valevski A; Bassan H; Korman SH; Lerman-Sagie T; Gutman A; Harel S
J Child Neurol; 2000 Aug; 15(8):539-43. PubMed ID: 10961793
[TBL] [Abstract][Full Text] [Related]
12. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer.
Ma J; Stampfer MJ; Giovannucci E; Artigas C; Hunter DJ; Fuchs C; Willett WC; Selhub J; Hennekens CH; Rozen R
Cancer Res; 1997 Mar; 57(6):1098-102. PubMed ID: 9067278
[TBL] [Abstract][Full Text] [Related]
13. The effect of 677C-->T and 1298A-->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects.
Chango A; Boisson F; Barbé F; Quilliot D; Droesch S; Pfister M; Fillon-Emery N; Lambert D; Frémont S; Rosenblatt DS; Nicolas JP
Br J Nutr; 2000 Jun; 83(6):593-6. PubMed ID: 10911766
[TBL] [Abstract][Full Text] [Related]
14. Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
Tonetti C; Saudubray JM; Echenne B; Landrieu P; Giraudier S; Zittoun J
Eur J Pediatr; 2003 Jul; 162(7-8):466-475. PubMed ID: 12733064
[TBL] [Abstract][Full Text] [Related]
15. 5,10-methylenetetrahydrofolate reductase common mutations, folate status and plasma homocysteine in healthy French adults of the Supplementation en Vitamines et Mineraux Antioxydants (SU.VI.MAX) cohort.
Chango A; Potier De Courcy G; Boisson F; Guilland JC; Barbé F; Perrin MO; Christidès JP; Rabhi K; Pfister M; Galan P; Hercberg S; Nicolas JP
Br J Nutr; 2000 Dec; 84(6):891-6. PubMed ID: 11177206
[TBL] [Abstract][Full Text] [Related]
16. Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
Kluijtmans LA; Wendel U; Stevens EM; van den Heuvel LP; Trijbels FJ; Blom HJ
Eur J Hum Genet; 1998; 6(3):257-65. PubMed ID: 9781030
[TBL] [Abstract][Full Text] [Related]
17. The number of dichorionic twin pregnancies is reduced by the common MTHFR 677C-->T mutation.
Hasbargen U; Lohse P; Thaler CJ
Hum Reprod; 2000 Dec; 15(12):2659-62. PubMed ID: 11098041
[TBL] [Abstract][Full Text] [Related]
18. A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk.
Lievers KJ; Boers GH; Verhoef P; den Heijer M; Kluijtmans LA; van der Put NM; Trijbels FJ; Blom HJ
J Mol Med (Berl); 2001 Sep; 79(9):522-8. PubMed ID: 11692165
[TBL] [Abstract][Full Text] [Related]
19. Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
Blom HJ
Eur J Pediatr; 2000 Dec; 159 Suppl 3():S208-12. PubMed ID: 11216902
[TBL] [Abstract][Full Text] [Related]
20. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
Prasad AN; Rupar CA; Prasad C
Brain Dev; 2011 Oct; 33(9):758-69. PubMed ID: 21778025
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]