BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 12655566)

  • 21. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
    Puy H; Robréau AM; Rosipal R; Nordmann Y; Deybach JC
    Biochem Biophys Res Commun; 1996 Sep; 226(1):226-30. PubMed ID: 8806618
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
    Frank J; Aita VM; Ahmad W; Lam H; Wolff C; Christiano AM
    Hum Hered; 2001; 51(3):160-8. PubMed ID: 11173967
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Gne symbol: PPOX. Disease: variegate porphyria.
    Patti E; Di Pierro E; Cappellini MD
    Hum Genet; 2004 Jul; 115(2):170. PubMed ID: 15300965
    [No Abstract]   [Full Text] [Related]  

  • 24. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
    Warnich L; Kotze MJ; Groenewald IM; Groenewald JZ; van Brakel MG; van Heerden CJ; de Villiers JN; van de Ven WJ; Schoenmakers EF; Taketani S; Retief AE
    Hum Mol Genet; 1996 Jul; 5(7):981-4. PubMed ID: 8817334
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
    Frank J; Jugert FK; Kalka K; Goerz G; Merk HF; Christiano AM
    J Invest Dermatol; 1998 Apr; 110(4):449-51. PubMed ID: 9540990
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.
    Meissner PN; Dailey TA; Hift RJ; Ziman M; Corrigall AV; Roberts AG; Meissner DM; Kirsch RE; Dailey HA
    Nat Genet; 1996 May; 13(1):95-7. PubMed ID: 8673113
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
    Frank J; McGrath J; Lam H; Graham RM; Hawk JL; Christiano AM
    J Invest Dermatol; 1998 Apr; 110(4):452-5. PubMed ID: 9540991
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
    Frank J; McGrath JA; Poh-Fitzpatrick MB; Hawk JL; Christiano AM
    Clin Exp Dermatol; 1999 Jul; 24(4):296-301. PubMed ID: 10457135
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
    Lam H; Dragan L; Tsou HC; Merk H; Peacocke M; Goerz G; Sassa S; Poh-Fitzpatrick M; Bickers DR; Christiano AM
    Hum Genet; 1997 Jan; 99(1):126-9. PubMed ID: 9003509
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
    Weinlich G; Doss MO; Sepp N; Fritsch P
    Acta Derm Venereol; 2001; 81(5):356-9. PubMed ID: 11800145
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Variegate porphyria (VP)].
    Yano Y; Kondo M
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):141-2. PubMed ID: 9645026
    [No Abstract]   [Full Text] [Related]  

  • 32. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
    Palmer RA; Elder GH; Barrett DF; Keohane SG
    Br J Dermatol; 2001 Apr; 144(4):866-9. PubMed ID: 11298551
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
    Maeda N; Horie Y; Sasaki Y; Adachi K; Nanba E; Nishida K; Saigo R; Nakagawa M; Kawasaki H; Kudo Y; Kondo M
    Clin Biochem; 2000 Aug; 33(6):495-500. PubMed ID: 11074242
    [No Abstract]   [Full Text] [Related]  

  • 34. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.
    Hift RJ; Meissner D; Meissner PN
    Br J Dermatol; 2004 Aug; 151(2):465-71. PubMed ID: 15327556
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
    van Tuyll van Serooskerken AM; Drögemöller BI; Te Velde K; Bladergroen RS; Steijlen PM; Poblete-Gutiérrez P; van Geel M; van Heerden CJ; Warnich L; Frank J
    Br J Dermatol; 2012 Feb; 166(2):261-5. PubMed ID: 21910705
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F; Di Pierro E; Fargion S; Biolcati G; Griso D; Macrì A; Fiorelli G; Cappellini MD
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
    Dailey HA; Dailey TA
    Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):67-73. PubMed ID: 9074790
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Gene symbol: PPOX. Disease: variegate porphyria.
    Patti E; Di Pierro E; Cappellini MD
    Hum Genet; 2004 Jul; 115(2):172. PubMed ID: 15300981
    [No Abstract]   [Full Text] [Related]  

  • 39. Molecular characterization of homozygous variegate porphyria.
    Roberts AG; Puy H; Dailey TA; Morgan RR; Whatley SD; Dailey HA; Martasek P; Nordmann Y; Deybach JC; Elder GH
    Hum Mol Genet; 1998 Nov; 7(12):1921-5. PubMed ID: 9811936
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
    Frank J; Lam H; Zaider E; Poh-Fitzpatrick M; Christiano AM
    J Med Genet; 1998 Mar; 35(3):244-7. PubMed ID: 9541112
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.