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    Results: 1 to 20 of 3233

    1.

    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.PMID: 18570668 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    [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 Jul-Aug;58(4):289-95. Spanish. PMID: 17146940 [PubMed - indexed for MEDLINE]Related articles

    3.

    Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

    von und zu Fraunberg M, Tenhunen R, Kauppinen R.

    Mol Med. 2001 May;7(5):320-8.PMID: 11474578 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

    Wiman A, Harper P, Floderus Y.

    Clin Genet. 2003 Aug;64(2):122-30.PMID: 12859407 [PubMed - indexed for MEDLINE]Related articles

    5.

    Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

    Lecha M, Badenas C, Puig S, Orfila J, Milà M, To-Figueras J, Muñoz C, Mercader P, Herrero C.

    J Eur Acad Dermatol Venereol. 2006 Sep;20(8):974-9.PMID: 16922948 [PubMed - indexed for MEDLINE]Related articles

    6.

    Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

    Deybach JC, Puy H, Robréau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y.

    Hum Mol Genet. 1996 Mar;5(3):407-10.PMID: 8852667 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

    D'Amato M, Bonuglia M, Barile S, Griso D, Macri A, Biolcati G.

    Hum Mutat. 2003 Apr;21(4):448.PMID: 12655566 [PubMed - indexed for MEDLINE]Related articles

    8.

    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.PMID: 9778454 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.PMID: 10486317 [PubMed - indexed for MEDLINE]Related articlesFree article

    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. No abstract available. PMID: 19320019 [PubMed - indexed for MEDLINE]Related articles

    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. No abstract available. PMID: 18350656 [PubMed - indexed for MEDLINE]Related articles

    12.

    Swiss patients with variegate porphyria have unique mutations.

    Schneider-Yin X, Minder EI.

    Swiss Med Wkly. 2006 Aug 5;136(31-32):515-9.PMID: 16947091 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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.PMID: 15660919 [PubMed - indexed for MEDLINE]Related articles

    14.

    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.PMID: 8817334 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].

    Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J Jr.

    Atherosclerosis. 1999 Sep;146(1):125-31.PMID: 10487495 [PubMed - indexed for MEDLINE]Related articles

    16.

    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.PMID: 9811936 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

    Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

    Mol Vis. 2008 Aug 25;14:1549-58.PMID: 18728755 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    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.PMID: 9003509 [PubMed - indexed for MEDLINE]Related articles

    19.

    Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus.

    Vitai M, Fátrai S, Rass P, Csordás M, Tarnai I.

    Clin Chem Lab Med. 2005;43(12):1346-50.PMID: 16309371 [PubMed - indexed for MEDLINE]Related articles

    20.

    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;50(5):915-23. Epub 2004 Feb 19.PMID: 14976149 [PubMed - indexed for MEDLINE]Related articlesFree article

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