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Journal Abstract Search

186 related items for PubMed ID: 12130528

  • 1. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
    Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G.
    Blood; 2002 Aug 01; 100(3):1075-7. PubMed ID: 12130528
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  • 4. 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 01; 88(4):396-401. PubMed ID: 12681966
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  • 5. 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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  • 6. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
    Radio FC, Majore S, Binni F, Valiante M, Ricerca BM, De Bernardo C, Morrone A, Grammatico P.
    Blood Cells Mol Dis; 2014 Apr 15; 52(2-3):83-7. PubMed ID: 24055163
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  • 7. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload.
    Barton EH, West PA, Rivers CA, Barton JC, Acton RT.
    Blood Cells Mol Dis; 2001 Apr 15; 27(1):279-84. PubMed ID: 11358388
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  • 8. 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 15; 49(12):1981-8. PubMed ID: 14633868
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  • 9. 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 15; 64(9):837-41. PubMed ID: 19759876
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  • 10. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
    Del-Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, Alvarez-Sala-Walther LA, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Gene; 2012 Oct 15; 508(1):15-20. PubMed ID: 22890139
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  • 11. 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 15; 91(4):420-5. PubMed ID: 26799139
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  • 12. 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 Jun 15; 11(3):269-75. PubMed ID: 17949288
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  • 13. [Clinical and genetic aspects of hereditary hemochromatosis].
    Bosserhoff AK, Hellerbrand C, Buettner R.
    Pathologe; 2001 May 15; 22(3):191-6. PubMed ID: 11402849
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  • 14. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
    Mendes AI, Ferro A, Martins R, Picanço I, Gomes S, Cerqueira R, Correia M, Nunes AR, Esteves J, Fleming R, Faustino P.
    Ann Hematol; 2009 Mar 15; 88(3):229-34. PubMed ID: 18762941
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  • 15. Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis.
    Press RD, Flora K, Gross C, Rabkin JM, Corless CL.
    Am J Clin Pathol; 1998 May 15; 109(5):577-84. PubMed ID: 9576576
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  • 16. 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 15; 47(5):404-10. PubMed ID: 9510559
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  • 17. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique.
    Hellerbrand C, Bosserhoff AK, Seegers S, Lingner G, Wrede C, Lock G, Schölmerich J, Büttner R.
    Scand J Gastroenterol; 2001 Nov 15; 36(11):1211-6. PubMed ID: 11686223
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  • 18. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload.
    Lee PL, Halloran C, West C, Beutler E.
    Blood Cells Mol Dis; 2001 Nov 15; 27(1):285-9. PubMed ID: 11358389
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  • 19. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
    Le Gac G, Mons F, Jacolot S, Scotet V, Férec C, Frébourg T.
    Br J Haematol; 2004 Jun 15; 125(5):674-8. PubMed ID: 15147384
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  • 20. HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
    Dereure O, Aguilar-Martinez P, Bessis D, Perney P, Vallat C, Guillot B, Blanc F, Guilhou JJ.
    Br J Dermatol; 2001 Mar 15; 144(3):533-9. PubMed ID: 11260010
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