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Journal Abstract Search

287 related items for PubMed ID: 20843714

  • 1. 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
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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. 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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  • 4. Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in german patients with hereditary haemochromatosis.
    Gottschalk R, Seidl C, Schilling S, Braner A, Seifried E, Hoelzer D, Kaltwasser JP.
    Eur J Immunogenet; 2000 Jun 31; 27(3):129-34. PubMed ID: 10940080
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  • 5. [Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload].
    Campos Franco J, González Quintela A, Fernández de Trocóniz LL, Barros Angueira F, Pérez-Quintela BV, Pérez Becerra E, Martínez de Rituerto ST, Otero Antón E, Torre Carballada JA.
    Rev Clin Esp; 2002 Oct 31; 202(10):534-9. PubMed ID: 12361551
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  • 6. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis.
    Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justiça B, Wolff R, De Sousa M.
    Immunogenetics; 1998 Apr 31; 47(5):404-10. PubMed ID: 9510559
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  • 7. 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 Apr 31; 27(1):290-3. PubMed ID: 11358390
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  • 8. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
    Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, Lassoued K, Schved JF, Rochette J.
    Haematologica; 2011 Apr 31; 96(4):507-14. PubMed ID: 21228038
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  • 10. 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
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  • 12. Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
    De Gobbi M, Daraio F, Oberkanins C, Moritz A, Kury F, Fiorelli G, Camaschella C.
    Haematologica; 2003 Apr 31; 88(4):396-401. PubMed ID: 12681966
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  • 13. 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 31; 84(10):646-9. PubMed ID: 15871018
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  • 16. 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 31; 69(4):295-301. PubMed ID: 10870847
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  • 19. Hemochromatosis and iron-overload screening in a racially diverse population.
    Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P, Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators.
    N Engl J Med; 2005 Apr 28; 352(17):1769-78. PubMed ID: 15858186
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