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Journal Abstract Search

117 related items for PubMed ID: 19477142

  • 1. A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.
    Pointon JJ, Lok CY, Shearman JD, Suckling RJ, Rochette J, Merryweather-Clarke AT, Robson KJ.
    Blood Cells Mol Dis; 2009; 43(2):194-8. PubMed ID: 19477142
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  • 2. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
    Santos PC, Cançado RD, Pereira AC, Schettert IT, Soares RA, Pagliusi RA, Hirata RD, Hirata MH, Teixeira AC, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Blood Cells Mol Dis; 2011 Apr 15; 46(4):302-7. PubMed ID: 21411349
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  • 3. A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.
    Padula MC, Martelli G, Larocca M, Rossano R, Olivieri A.
    Blood Cells Mol Dis; 2014 Sep 15; 53(3):138-43. PubMed ID: 24920245
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  • 4. A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.
    Cukjati M, Koren S, Curin Serbec V, Vidan-Jeras B, Rupreht R.
    Clin Genet; 2007 Apr 15; 71(4):350-3. PubMed ID: 17470136
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  • 5. Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
    Lee PL, Barton JC.
    Acta Haematol; 2006 Apr 15; 115(1-2):102-5. PubMed ID: 16424658
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  • 6. Hepatic iron metabolism gene expression profiles in HFE associated hereditary hemochromatosis.
    Gleeson F, Ryan E, Barrett S, Russell J, Crowe J.
    Blood Cells Mol Dis; 2007 Apr 15; 38(1):37-44. PubMed ID: 17098454
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  • 10. A previously undescribed nonsense mutation of the HFE gene.
    Beutler E, Griffin MJ, Gelbart T, West C.
    Clin Genet; 2002 Jan 15; 61(1):40-2. PubMed ID: 11903354
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  • 12. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
    Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.
    Hum Mol Genet; 2003 Sep 01; 12(17):2241-7. PubMed ID: 12915468
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  • 13. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
    Altès A, Bach V, Ruiz A, Esteve A, Felez J, Remacha AF, Sardà MP, Baiget M.
    Ann Hematol; 2009 Oct 01; 88(10):951-5. PubMed ID: 19214511
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  • 14. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
    Barton JC, Lafreniere SA, Leiendecker-Foster C, Li H, Acton RT, Press RD, Eckfeldt JH.
    Am J Hematol; 2009 Nov 01; 84(11):710-4. PubMed ID: 19787796
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  • 16. Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.
    Gouya L, Muzeau F, Robreau AM, Letteron P, Couchi E, Lyoumi S, Deybach JC, Puy H, Fleming R, Demant P, Beaumont C, Grandchamp B.
    Gastroenterology; 2007 Feb 01; 132(2):679-86. PubMed ID: 17258727
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  • 18. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
    Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, Perrin M, Morcet J, Brissot P, David V, Deugnier Y, Mosser J.
    Am J Hum Genet; 2007 Oct 01; 81(4):799-807. PubMed ID: 17847004
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  • 19. HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
    Barton JC, Acton RT, Leiendecker-Foster C, Lovato L, Adams PC, McLaren GD, Eckfeldt JH, McLaren CE, Reboussin DM, Gordeuk VR, Speechley MR, Reiss JA, Press RD, Dawkins FW, Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators.
    Genet Test; 2007 Oct 01; 11(3):269-75. PubMed ID: 17949288
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  • 20. A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.
    Swinkels DW, Venselaar H, Wiegerinck ET, Bakker E, Joosten I, Jaspers CA, Vasmel WL, Breuning MH.
    Blood Cells Mol Dis; 2008 Oct 01; 40(3):334-8. PubMed ID: 18042412
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