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Journal Abstract Search

184 related items for PubMed ID: 8852667

  • 21. 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]

  • 22. The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
    Frank J, Poh-Fitzpatrick MB, King LE, Christiano AM.
    Arch Dermatol Res; 1998 Aug; 290(8):441-5. PubMed ID: 9763307
    [Abstract] [Full Text] [Related]

  • 23. Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.
    De Siervi A, Parera VE, del C Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102990
    [No Abstract] [Full Text] [Related]

  • 24.
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    [No Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.
    Kotze MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L.
    Mol Cell Probes; 1998 Oct; 12(5):293-300. PubMed ID: 9778454
    [Abstract] [Full Text] [Related]

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

  • 28. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
    Warnich L, Kimberg M, Kotze MJ, Ohashi T, Taketani S, Louw BJ.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):57-60. PubMed ID: 11930946
    [Abstract] [Full Text] [Related]

  • 29. Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
    McGrath JA, Hawk JL, Graham RM, Christiano AM.
    Br J Dermatol; 1997 Feb; 136(2):292. PubMed ID: 9068758
    [No Abstract] [Full Text] [Related]

  • 30. Genetic and biochemical studies in Argentinean patients with variegate porphyria.
    Rossetti MV, Granata BX, Giudice J, Parera VE, Batlle A.
    BMC Med Genet; 2008 Jun 20; 9():54. PubMed ID: 18570668
    [Abstract] [Full Text] [Related]

  • 31. A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
    Siervi AD, Parera VE, Varela LS, Batlle AM, Rossetti MV.
    Hum Mutat; 2000 Jul 20; 16(1):96. PubMed ID: 10874330
    [No Abstract] [Full Text] [Related]

  • 32. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
    Roberts AG, Whatley SD, Daniels J, Holmans P, Fenton I, Owen MJ, Thompson P, Long C, Elder GH.
    Hum Mol Genet; 1995 Dec 20; 4(12):2387-90. PubMed ID: 8634714
    [Abstract] [Full Text] [Related]

  • 33. 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 20; 110(4):452-5. PubMed ID: 9540991
    [Abstract] [Full Text] [Related]

  • 34. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
    de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L.
    Exp Dermatol; 2005 Jan 20; 14(1):50-5. PubMed ID: 15660919
    [Abstract] [Full Text] [Related]

  • 35. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F, Di Pierro E, Patti E, Tavazzi D, Danielli MG, Biolcati G, Rocchi E, Cappellini MD.
    Cell Mol Biol (Noisy-le-grand); 2002 Dec 20; 48(8):867-76. PubMed ID: 12699245
    [Abstract] [Full Text] [Related]

  • 36. Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
    Donnelly JG, Detombe S, Hindmarsh JT.
    Ann Clin Lab Sci; 2002 Dec 20; 32(2):107-13. PubMed ID: 12017191
    [Abstract] [Full Text] [Related]

  • 37. A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
    Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, Bickers DR, Poh-Fitzpatrick MB, Christiano AM.
    J Invest Dermatol; 2001 May 20; 116(5):821-3. PubMed ID: 11348478
    [No Abstract] [Full Text] [Related]

  • 38. A mouse model for South African (R59W) variegate porphyria: construction and initial characterization.
    Medlock AE, Meissner PN, Davidson BP, Corrigall AV, Dailey HA.
    Cell Mol Biol (Noisy-le-grand); 2002 Feb 20; 48(1):71-8. PubMed ID: 11929050
    [Abstract] [Full Text] [Related]

  • 39. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.
    Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN.
    Clin Chem; 2004 May 20; 50(5):915-23. PubMed ID: 14976149
    [Abstract] [Full Text] [Related]

  • 40. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
    von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R.
    Eur J Hum Genet; 2002 Oct 20; 10(10):649-57. PubMed ID: 12357337
    [Abstract] [Full Text] [Related]

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