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Journal Abstract Search

155 related items for PubMed ID: 9893753

  • 1. A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis.
    Smillie D.
    Mol Pathol; 1998 Aug; 51(4):232-3. PubMed ID: 9893753
    [Abstract] [Full Text] [Related]

  • 2. A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
    Smillie D.
    Mol Pathol; 1997 Oct; 50(5):275-6. PubMed ID: 9497921
    [Abstract] [Full Text] [Related]

  • 3. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.
    Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R.
    J Hepatol; 1998 Nov; 29(5):725-8. PubMed ID: 9833909
    [Abstract] [Full Text] [Related]

  • 4. [From gene to disease; HFE-mutations in primary haemochromatosis].
    Swinkels DW, Jacobs EM.
    Ned Tijdschr Geneeskd; 2003 Apr 05; 147(14):652-6. PubMed ID: 12712648
    [Abstract] [Full Text] [Related]

  • 5. Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.
    Klingler KR, Zech D, Wielckens K.
    Clin Chem Lab Med; 2000 Dec 05; 38(12):1225-30. PubMed ID: 11205685
    [Abstract] [Full Text] [Related]

  • 6. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.
    Datz C, Lalloz MR, Vogel W, Graziadei I, Hackl F, Vautier G, Layton DM, Maier-Dobersberger T, Ferenci P, Penner E, Sandhofer F, Bomford A, Paulweber B.
    J Hepatol; 1997 Nov 05; 27(5):773-9. PubMed ID: 9382962
    [Abstract] [Full Text] [Related]

  • 7. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis.
    Barton JC, Shih WW, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, Rothenberg BE.
    Blood Cells Mol Dis; 1997 Nov 05; 23(1):135-45; discussion 145a-b. PubMed ID: 9215758
    [Abstract] [Full Text] [Related]

  • 8. [Demonstration of HFE polymorphism in German patients with hereditary hemochromatosis].
    Erhardt A, Niederau C, Osman Y, Hassan M, Häussinger D.
    Dtsch Med Wochenschr; 1999 Dec 03; 124(48):1448-52. PubMed ID: 10615325
    [Abstract] [Full Text] [Related]

  • 9. Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.
    Aslam S, Standen GR.
    Postgrad Med J; 1997 Sep 03; 73(863):573-4. PubMed ID: 9373599
    [Abstract] [Full Text] [Related]

  • 10. Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.
    Van Vlierberghe H, Messiaen L, Hautekeete M, De Paepe A, Elewaut A.
    Acta Gastroenterol Belg; 2000 Sep 03; 63(3):250-3. PubMed ID: 11189980
    [Abstract] [Full Text] [Related]

  • 11. [Frequency of HFE gene mutations and genotype-phenotype correlations in patients with hereditary hemochromatosis in Switzerland].
    Himmelmann A, Bortoluzzi L, Jansen S, Fehr J.
    Schweiz Med Wochenschr; 2000 Aug 08; 130(31-32):1112-9. PubMed ID: 11008304
    [Abstract] [Full Text] [Related]

  • 12. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.
    Baty D, Terron Kwiatkowski A, Mechan D, Harris A, Pippard MJ, Goudie D.
    J Clin Pathol; 1998 Jan 08; 51(1):73-4. PubMed ID: 9577377
    [Abstract] [Full Text] [Related]

  • 13. Abnormal regulation of HFE mRNA expression does not contribute to primary iron overload.
    Vercesi E, Cerani P, Rolandi V, Rovati A, Bergamaschi G.
    Haematologica; 2000 Aug 08; 85(8):787-91. PubMed ID: 10942923
    [Abstract] [Full Text] [Related]

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  • 15. Genetics of hemochromatosis.
    Cullen LM, Anderson GJ, Ramm GA, Jazwinska EC, Powell LW.
    Annu Rev Med; 1999 Aug 08; 50():87-98. PubMed ID: 10073265
    [Abstract] [Full Text] [Related]

  • 16. Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers.
    Steffensen R, Varming K, Jersild C.
    Tissue Antigens; 1998 Sep 08; 52(3):230-5. PubMed ID: 9802602
    [Abstract] [Full Text] [Related]

  • 17. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
    Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH.
    Lancet; 1997 Feb 01; 349(9048):321-3. PubMed ID: 9024376
    [Abstract] [Full Text] [Related]

  • 18. Rapid detection of genetic mutations associated with haemochromatosis.
    Guttridge MG, Thompson J, Worwood M, Darke C.
    Vox Sang; 1998 Feb 01; 75(3):253-6. PubMed ID: 9852416
    [Abstract] [Full Text] [Related]

  • 19. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
    Cadet E, Capron D, Gallet M, Omanga-Léké ML, Boutignon H, Julier C, Robson KJ, Rochette J.
    J Med Genet; 2005 May 01; 42(5):390-5. PubMed ID: 15863667
    [Abstract] [Full Text] [Related]

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