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Journal Abstract Search

179 related items for PubMed ID: 24920245

  • 1. 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; 53(3):138-43. PubMed ID: 24920245
    [Abstract] [Full Text] [Related]

  • 2. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
    Santos PC, Pereira AC, Cançado RD, Schettert IT, Sobreira TJ, Oliveira PS, Hirata RD, Hirata MH, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Blood Cells Mol Dis; 2010 Dec 15; 45(4):302-7. PubMed ID: 20843714
    [Abstract] [Full Text] [Related]

  • 3. 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 Dec 15; 43(2):194-8. PubMed ID: 19477142
    [Abstract] [Full Text] [Related]

  • 4. 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 Dec 15; 27(1):290-3. PubMed ID: 11358390
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 85(8):787-91. PubMed ID: 10942923
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.
    Martins R, Proença D, Silva B, Barbosa C, Silva AL, Faustino P, Romão L.
    PLoS One; 2012 Apr 15; 7(4):e35461. PubMed ID: 22530027
    [Abstract] [Full Text] [Related]

  • 8. Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism.
    Gómez-Llorente C, Miranda-León MT, Blanco S, Gandia-Pla S, Gómez-Capilla JA, Fárez-Vidal ME.
    Ann Hematol; 2005 Oct 15; 84(10):650-5. PubMed ID: 15986199
    [Abstract] [Full Text] [Related]

  • 9. Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
    Branco CC, Gomes CT, De Fez L, Bulhões S, Brilhante MJ, Pereirinha T, Cabral R, Rego AC, Fraga C, Miguel AG, Brasil G, Macedo P, Mota-Vieira L.
    PLoS One; 2015 Oct 15; 10(10):e0140228. PubMed ID: 26501199
    [Abstract] [Full Text] [Related]

  • 10. Relation between HFE mutations and mild iron-overload expression.
    Mura C, Le Gac G, Raguénes O, Mercier AY, Le Guen A, Férec C.
    Mol Genet Metab; 2000 Apr 15; 69(4):295-301. PubMed ID: 10870847
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder.
    Viprakasit V, Vathesathokit P, Chinchang W, Tachavanich K, Pung-Amritt P, Wimhurst VL, Yenchitsomanus PT, Merryweather-Clarke AT, Tanphaichitr VS.
    Eur J Haematol; 2004 Jul 15; 73(1):43-9. PubMed ID: 15182337
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
    Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D.
    Am J Hematol; 2016 Jun 31; 91(4):420-5. PubMed ID: 26799139
    [Abstract] [Full Text] [Related]

  • 15. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.
    Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD.
    Blood Cells Mol Dis; 1997 Aug 31; 23(2):314-20. PubMed ID: 9410475
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis.
    Lawless MW, White M, Mankan AK, O'Dwyer MJ, Norris S.
    Tissue Antigens; 2007 Oct 01; 70(4):294-300. PubMed ID: 17767550
    [Abstract] [Full Text] [Related]

  • 18. Mutations of the HFE gene among Turkish hereditary hemochromatosis patients.
    Simsek H, Balaban YH, Yilmaz E, Sumer H, Buyukasik Y, Cengiz C, Ozcebe O, Hascelik G, Tatar G.
    Ann Hematol; 2005 Oct 01; 84(10):646-9. PubMed ID: 15871018
    [Abstract] [Full Text] [Related]

  • 19. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
    McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD.
    Hepatology; 2015 Aug 01; 62(2):429-39. PubMed ID: 25605615
    [Abstract] [Full Text] [Related]

  • 20. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.
    Kucinskas L, Juzenas S, Sventoraityte J, Cedaviciute R, Vitkauskiene A, Kalibatas V, Kondrackiene J, Kupcinskas L.
    Ann Hematol; 2012 Apr 01; 91(4):491-5. PubMed ID: 21947086
    [Abstract] [Full Text] [Related]

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