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Journal Abstract Search


188 related items for PubMed ID: 17134494

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  • 2. [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
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  • 5. High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy.
    De Marco F, Liguori R, Giardina MG, D'Armiento M, Angelucci E, Lucariello A, Morante R, Cimino L, Galeota-Lanza A, Tarantino G, Ascione A, Budillon G, Vecchione R, Martinelli R, Matarazzo M, De Simone V.
    Clin Chem Lab Med; 2004 Jan 08; 42(1):17-24. PubMed ID: 15061375
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  • 7. Genotyping as a diagnostic aid in genetic haemochromatosis.
    Rossi E, Henderson S, Chin CY, Olynyk J, Beilby JP, Reed WD, Jeffrey GP.
    J Gastroenterol Hepatol; 1999 May 08; 14(5):427-30. PubMed ID: 10355506
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  • 8. Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).
    Martinelli AL, Filho R, Cruz S, Franco R, Tavella M, Secaf M, Ramalho L, Zucoloto S, Rodrigues S, Zago M.
    Genet Mol Res; 2005 Mar 31; 4(1):31-8. PubMed ID: 15841433
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  • 9. DNA testing for haemochromatosis: diagnostic, predictive and screening implications.
    Trent RJ, Le H, Yu B, Young G, Bowden DK.
    Pathology; 2000 Nov 31; 32(4):274-9. PubMed ID: 11186424
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  • 12. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.
    Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.
    Blood Cells Mol Dis; 2001 Nov 31; 27(1):290-3. PubMed ID: 11358390
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  • 13. Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
    Kotze MJ, de Villiers JN, Bouwens CS, Warnich L, Zaahl MG, van der Merwe S, Oberkanins C.
    Clin Genet; 2004 Apr 31; 65(4):317-21. PubMed ID: 15025725
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  • 14. The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.
    Watkins S, Thorburn D, Joshi N, Neilson M, Joyce T, Spooner R, Cooke A, Mills PR, Morris AJ, Stanley AJ.
    Eur J Gastroenterol Hepatol; 2008 May 31; 20(5):379-83. PubMed ID: 18403938
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  • 15. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
    Scotet V, Le Gac G, Mérour MC, Mercier AY, Chanu B, Ka C, Mura C, Nousbaum JB, Férec C.
    BMC Med Genet; 2005 Jun 01; 6():24. PubMed ID: 15929798
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  • 16. Uncommon mutations and polymorphisms in the hemochromatosis gene.
    Pointon JJ, Wallace D, Merryweather-Clarke AT, Robson KJ.
    Genet Test; 2000 Jun 01; 4(2):151-61. PubMed ID: 10953955
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  • 17. HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis.
    Acton RT, Barton JC.
    Genet Test; 2001 Jun 01; 5(4):299-306. PubMed ID: 11960574
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  • 18. Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.
    de Diego C, Murga MJ, Martínez-Castro P.
    Genet Test; 2004 Jun 01; 8(3):263-7. PubMed ID: 15727249
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  • 19. Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.
    Stuhrmann M, Strassburg C, Schmidtke J.
    Eur J Hum Genet; 2005 Jan 01; 13(1):69-78. PubMed ID: 15483651
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  • 20. [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
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