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Journal Abstract Search

202 related items for PubMed ID: 14669009

  • 1.
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  • 2. 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; 48(8):867-76. PubMed ID: 12699245
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  • 3. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
    Gouya L, Puy H, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y, Deybach JC.
    Blood; 1999 Mar 15; 93(6):2105-10. PubMed ID: 10068685
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  • 4. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ.
    Mol Genet Metab; 2019 Nov 15; 128(3):352-357. PubMed ID: 30385147
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  • 5. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
    Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN.
    Clin Chem; 2009 Jul 15; 55(7):1406-14. PubMed ID: 19460837
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  • 8. Review: molecular pathogenesis of hepatic acute porphyrias.
    Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y.
    J Gastroenterol Hepatol; 1996 Nov 15; 11(11):1046-52. PubMed ID: 8985829
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  • 9. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
    Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI.
    Eur J Pediatr; 2000 Oct 15; 159(10):719-25. PubMed ID: 11039124
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  • 10. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
    Gouya L, Deybach JC, Lamoril J, Da Silva V, Beaumont C, Grandchamp B, Nordmann Y.
    Am J Hum Genet; 1996 Feb 15; 58(2):292-9. PubMed ID: 8571955
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  • 11. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
    Yasuda M, Chen B, Desnick RJ.
    Mol Genet Metab; 2019 Nov 15; 128(3):320-331. PubMed ID: 30594473
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  • 12. [Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
    Surin VL, Luchinina IuA, Selivanova DS, Pustovoĭt IaS, Karpova IS, Pivnik AV, Luk'ianenko AV, Kravchenko SK.
    Genetika; 2010 Apr 15; 46(4):540-52. PubMed ID: 20536026
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  • 13. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
    Onaga Y, Ido A, Uto H, Hasuike S, Kusumoto K, Moriuchi A, Numata M, Nagata K, Hori T, Hayashi K, Tsubouchi H.
    Biochem Biophys Res Commun; 2004 Sep 03; 321(4):851-8. PubMed ID: 15358105
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  • 14. 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 03; 5(3):407-10. PubMed ID: 8852667
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  • 15. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
    Rüfenacht UB, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, Nordmann Y, Minder EI, Deybach JC.
    Am J Hum Genet; 1998 Jun 03; 62(6):1341-52. PubMed ID: 9585598
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  • 16. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
    Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.
    J Hepatol; 2015 Mar 03; 62(3):734-8. PubMed ID: 25445397
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 12(5):293-300. PubMed ID: 9778454
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  • 18. Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
    Schneider-Yin X, Rüfenacht UB, Hergersberg M, Schnyder C, Deybach JC, Minder EI.
    J Invest Dermatol; 2001 Dec 03; 117(6):1521-5. PubMed ID: 11886517
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  • 19. Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
    Wiman A, Harper P, Floderus Y.
    Clin Genet; 2003 Aug 03; 64(2):122-30. PubMed ID: 12859407
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  • 20. Porphyria in Switzerland, 15 years experience.
    Schneider-Yin X, Harms J, Minder EI.
    Swiss Med Wkly; 2009 Apr 04; 139(13-14):198-206. PubMed ID: 19350426
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