BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 26291966)

  • 1. Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.
    Forestier A; Pissard S; Cretet J; Mambie A; Pascal L; Cliquennois M; Cambier N; Rose C
    Hemoglobin; 2015; 39(6):438-41. PubMed ID: 26291966
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
    Vieira LM; Kaplan JC; Kahn A; Leroux A
    Blood; 1995 Apr; 85(8):2254-62. PubMed ID: 7718898
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
    Kugler W; Pekrun A; Laspe P; Erdlenbruch B; Lakomek M
    Hum Mutat; 2001 Apr; 17(4):348. PubMed ID: 11295830
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.
    Wang Y; Wu YS; Zheng PZ; Yang WX; Fang GA; Tang YC; Xie F; Lan FH; Zhu ZY
    Blood; 2000 May; 95(10):3250-5. PubMed ID: 10807796
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.
    Aalfs CM; Salieb-Beugelaar GB; Wanders RJ; Mannens MM; Wijburg FA
    Hum Mutat; 2000; 16(1):18-22. PubMed ID: 10874300
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.
    Kedar PS; Colah RB; Ghosh K; Mohanty D
    Haematologia (Budap); 2002; 32(4):543-9. PubMed ID: 12803131
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
    Katsube T; Sakamoto N; Kobayashi Y; Seki R; Hirano M; Tanishima K; Tomoda A; Takazakura E; Yubisui T; Takeshita M
    Am J Hum Genet; 1991 Apr; 48(4):799-808. PubMed ID: 1707593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia.
    Manabe J; Arya R; Sumimoto H; Yubisui T; Bellingham AJ; Layton DM; Fukumaki Y
    Blood; 1996 Oct; 88(8):3208-15. PubMed ID: 8874222
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
    Kobayashi Y; Fukumaki Y; Yubisui T; Inoue J; Sakaki Y
    Blood; 1990 Apr; 75(7):1408-13. PubMed ID: 2107882
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia].
    Kobayashi Y
    Fukuoka Igaku Zasshi; 1990 Jan; 81(1):41-7. PubMed ID: 2323714
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.
    Percy MJ; Gillespie MJ; Savage G; Hughes AE; McMullin MF; Lappin TR
    Blood; 2002 Nov; 100(10):3447-9. PubMed ID: 12393396
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.
    Dekker J; Eppink MH; van Zwieten R; de Rijk T; Remacha AF; Law LK; Li AM; Cheung KL; van Berkel WJ; Roos D
    Blood; 2001 Feb; 97(4):1106-14. PubMed ID: 11159544
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D.
    Davis CA; Barber MJ
    Arch Biochem Biophys; 2004 May; 425(2):123-32. PubMed ID: 15111120
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase.
    Percy MJ; Oren H; Savage G; Irken G
    Hematol J; 2004; 5(4):367-70. PubMed ID: 15297856
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site.
    Bewley MC; Davis CA; Marohnic CC; Taormina D; Barber MJ
    Biochemistry; 2003 Nov; 42(45):13145-51. PubMed ID: 14609324
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Enzymopenic hereditary methemoglobinemia.
    Jaffé ER
    Haematologia (Budap); 1982 Dec; 15(4):389-99. PubMed ID: 6764628
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A novel point mutation in NADH-cytochrome b5 reductase gene].
    Wang Y; Wu Y; Yang W
    Zhonghua Xue Ye Xue Za Zhi; 1999 Oct; 20(10):521-3. PubMed ID: 11721397
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Leu 72 Pro mutation in the NADH-cytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient].
    Wu Y; Huang C; Zhu Z
    Zhonghua Xue Ye Xue Za Zhi; 1998 Apr; 19(4):195-7. PubMed ID: 11243135
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and biological forms of cytochrome b5 reductase deficiency].
    Kaplan JC; Leroux A; Beauvais P
    C R Seances Soc Biol Fil; 1979; 173(2):368-79. PubMed ID: 159760
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Thai boy with hereditary enzymopenic methemoglobinemia type II.
    Shotelersuk V; Tosukhowong P; Chotivitayatarakorn P; Pongpunlert W
    J Med Assoc Thai; 2000 Nov; 83(11):1380-6. PubMed ID: 11215870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.