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Journal Abstract Search

624 related items for PubMed ID: 12915468

  • 1. 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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  • 2. 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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  • 5. 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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  • 9. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
    Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C.
    Blood; 2004 Apr 01; 103(7):2835-40. PubMed ID: 14670915
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  • 10. Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.
    Biasiotto G, Roetto A, Daraio F, Polotti A, Gerardi GM, Girelli D, Cremonesi L, Arosio P, Camaschella C.
    Blood Cells Mol Dis; 2004 Apr 01; 33(3):338-43. PubMed ID: 15528154
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  • 11. HFE mutations, iron deficiency and overload in 10,500 blood donors.
    Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M.
    Br J Haematol; 2001 Aug 01; 114(2):474-84. PubMed ID: 11529872
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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 Aug 01; 27(1):290-3. PubMed ID: 11358390
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  • 13. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.
    Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, Andrews NC, Vaulont S.
    Nat Genet; 2003 May 01; 34(1):97-101. PubMed ID: 12704388
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  • 14. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
    Biasiotto G, Belloli S, Ruggeri G, Zanella I, Gerardi G, Corrado M, Gobbi E, Albertini A, Arosio P.
    Clin Chem; 2003 Dec 01; 49(12):1981-8. PubMed ID: 14633868
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  • 15. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
    Bittencourt PL, Marin ML, Couto CA, Cançado EL, Carrilho FJ, Goldberg AC.
    Clinics (Sao Paulo); 2009 Dec 01; 64(9):837-41. PubMed ID: 19759876
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  • 19. 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 01; 91(4):420-5. PubMed ID: 26799139
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  • 20. 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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