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297 related items for PubMed ID: 10923034

  • 1. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
    Goyette P, Rozen R.
    Hum Mutat; 2000; 16(2):132-8. PubMed ID: 10923034
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 May; 15(3):280-7. PubMed ID: 10679944
    [Abstract] [Full Text] [Related]

  • 4. 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.
    Nat Genet; 1995 May; 10(1):111-3. PubMed ID: 7647779
    [Abstract] [Full Text] [Related]

  • 5. 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.
    Am J Hum Genet; 1996 Dec; 59(6):1268-75. PubMed ID: 8940272
    [Abstract] [Full Text] [Related]

  • 6. 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 Dec; 6(3):257-65. PubMed ID: 9781030
    [Abstract] [Full Text] [Related]

  • 7. A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls.
    Linnebank M, Homberger A, Nowak-Göttl U, Koch HG.
    Hum Mutat; 2002 Dec; 20(6):478. PubMed ID: 12442281
    [Abstract] [Full Text] [Related]

  • 8. Association of methylenetetrahydrofolate reductase polymorphism C677T and dietary folate with the risk of cervical dysplasia.
    Goodman MT, McDuffie K, Hernandez B, Wilkens LR, Bertram CC, Killeen J, Le Marchand L, Selhub J, Murphy S, Donlon TA.
    Cancer Epidemiol Biomarkers Prev; 2001 Dec; 10(12):1275-80. PubMed ID: 11751445
    [Abstract] [Full Text] [Related]

  • 9. Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis.
    Kluijtmans LA, den Heijer M, Reitsma PH, Heil SG, Blom HJ, Rosendaal FR.
    Thromb Haemost; 1998 Feb; 79(2):254-8. PubMed ID: 9493571
    [Abstract] [Full Text] [Related]

  • 10. [Molecular genetics of MTHFR: polymorphisms are not all benign].
    Leclerc D, Rozen R.
    Med Sci (Paris); 2007 Mar; 23(3):297-302. PubMed ID: 17349292
    [Abstract] [Full Text] [Related]

  • 11. Molecular biology of 5,10-methylenetetrahydrofolate reductase.
    Födinger M, Hörl WH, Sunder-Plassmann G.
    J Nephrol; 2000 Mar; 13(1):20-33. PubMed ID: 10720211
    [Abstract] [Full Text] [Related]

  • 12. Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.
    Tran P, Leclerc D, Chan M, Pai A, Hiou-Tim F, Wu Q, Goyette P, Artigas C, Milos R, Rozen R.
    Mamm Genome; 2002 Sep; 13(9):483-92. PubMed ID: 12370778
    [Abstract] [Full Text] [Related]

  • 13. Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).
    Stegmann K, Ziegler A, Ngo ET, Kohlschmidt N, Schröter B, Ermert A, Koch MC.
    Am J Med Genet; 1999 Nov 05; 87(1):23-9. PubMed ID: 10528242
    [Abstract] [Full Text] [Related]

  • 14. Frequency of the 677 C-->T mutation of the methylenetetrahydrofolate reductase gene among Kuwaiti sickle cell disease patients.
    Adekile AD, Kutlar F, Haider MZ, Kutlar A.
    Am J Hematol; 2001 Apr 05; 66(4):263-6. PubMed ID: 11279637
    [Abstract] [Full Text] [Related]

  • 15. Methylenetetrahydrofolate reductase thermolabile variant and oral clefts.
    Mills JL, Kirke PN, Molloy AM, Burke H, Conley MR, Lee YJ, Mayne PD, Weir DG, Scott JM.
    Am J Med Genet; 1999 Sep 03; 86(1):71-4. PubMed ID: 10440833
    [Abstract] [Full Text] [Related]

  • 16. Molecular genetics of methylenetetrahydrofolate reductase deficiency.
    Rozen R.
    J Inherit Metab Dis; 1996 Sep 03; 19(5):589-94. PubMed ID: 8892013
    [Abstract] [Full Text] [Related]

  • 17. [Prevalence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) in the Hungarian population].
    Czeizel E, Tímár L, Botto L.
    Orv Hetil; 2001 Jun 10; 142(23):1227-9. PubMed ID: 11433922
    [Abstract] [Full Text] [Related]

  • 18. [Polymorphism of the methylenetetrahydrofolate reductase gene (MTHFR) and incidence of hyperhomocysteinemia-related diseases].
    Pawlak AL, Strauss E.
    Postepy Hig Med Dosw; 2001 Jun 10; 55(2):233-56. PubMed ID: 11468972
    [Abstract] [Full Text] [Related]

  • 19. Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy.
    Toffoli G, Gafà R, Russo A, Lanza G, Dolcetti R, Sartor F, Libra M, Viel A, Boiocchi M.
    Clin Cancer Res; 2003 Feb 10; 9(2):743-8. PubMed ID: 12576444
    [Abstract] [Full Text] [Related]

  • 20. Genetic susceptibility to preeclampsia: roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase, and factor V Leiden mutation.
    Kim YJ, Williamson RA, Murray JC, Andrews J, Pietscher JJ, Peraud PJ, Merrill DC.
    Am J Obstet Gynecol; 2001 May 10; 184(6):1211-7. PubMed ID: 11349190
    [Abstract] [Full Text] [Related]

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