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Journal Abstract Search

144 related items for PubMed ID: 21910705

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 14(1):50-5. PubMed ID: 15660919
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
    Wolff C, Frank J, Poblete-Gutiérrez P.
    Rev Invest Clin; 2006 Aug; 58(4):289-95. PubMed ID: 17146940
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Retracing an old journey in variegate porphyria.
    Badminton MN.
    Br J Dermatol; 2012 Feb; 166(2):237. PubMed ID: 22268855
    [No Abstract] [Full Text] [Related]

  • 8. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
    Corrigall AV, Hift RJ, Hancock V, Meissner D, Davids L, Kirsch RE, Meissner PN.
    Hum Mutat; 1998 Feb; 12(6):403-7. PubMed ID: 9829909
    [Abstract] [Full Text] [Related]

  • 9. A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
    van Serooskerken AM, Ernst M, Bladergroen RS, Wolff C, Floderus Y, Harper P, Poblete-Gutiérrez P, van Geel M, Frank J.
    J Dermatol Sci; 2011 Jan; 61(1):75-7. PubMed ID: 21111578
    [No Abstract] [Full Text] [Related]

  • 10. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S, Moriondo V, Marchini S, Besana V, Di Pierro E, Brancaleoni V, Ventura P, Rocchi E, Cappellini MD.
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320019
    [No Abstract] [Full Text] [Related]

  • 11. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S, Di Pierro E, Brancaleoni V, Besana V, Cappellini MD.
    Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350656
    [No Abstract] [Full Text] [Related]

  • 12. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.
    Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.
    Mol Genet Metab; 2000 Apr; 69(4):323-30. PubMed ID: 10870850
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial targeting of human protoporphyrinogen oxidase.
    Davids LM, Corrigall AV, Meissner PN.
    Cell Biol Int; 2006 May; 30(5):416-26. PubMed ID: 16621625
    [Abstract] [Full Text] [Related]

  • 14. Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
    Corrigall AV, Hift RJ, Davids LM, Hancock V, Meissner D, Kirsch RE, Meissner PN.
    Mol Genet Metab; 2001 May; 73(1):91-6. PubMed ID: 11350188
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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 Jul; 51(3):160-8. PubMed ID: 11173967
    [Abstract] [Full Text] [Related]

  • 17. Hepatocellular carcinoma in variegate porphyria: a serious complication.
    Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI, Frank J.
    Acta Derm Venereol; 2010 Sep; 90(5):512-5. PubMed ID: 20814629
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
    Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, Elder GH, Deybach JC.
    Am J Hum Genet; 1999 Oct; 65(4):984-94. PubMed ID: 10486317
    [Abstract] [Full Text] [Related]

  • 20. 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]

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