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Journal Abstract Search

257 related items for PubMed ID: 24055163

  • 1. 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; 52(2-3):83-7. PubMed ID: 24055163
    [Abstract] [Full Text] [Related]

  • 2. 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; 27(1):290-3. PubMed ID: 11358390
    [Abstract] [Full Text] [Related]

  • 3. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
    Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P.
    Haematologica; 2006 Aug; 91(8 Suppl):ECR33. PubMed ID: 16923517
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 125(5):674-8. PubMed ID: 15147384
    [Abstract] [Full Text] [Related]

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

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis.
    Fleming RE, Migas MC, Holden CC, Waheed A, Britton RS, Tomatsu S, Bacon BR, Sly WS.
    Proc Natl Acad Sci U S A; 2000 Feb 29; 97(5):2214-9. PubMed ID: 10681454
    [Abstract] [Full Text] [Related]

  • 9. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.
    Fleming RE, Ahmann JR, Migas MC, Waheed A, Koeffler HP, Kawabata H, Britton RS, Bacon BR, Sly WS.
    Proc Natl Acad Sci U S A; 2002 Aug 06; 99(16):10653-8. PubMed ID: 12134060
    [Abstract] [Full Text] [Related]

  • 10. 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 Aug 06; 38(1):37-44. PubMed ID: 17098454
    [Abstract] [Full Text] [Related]

  • 11. DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
    Li Y, Xu A, Ouyang Q, Zhang W, Zhang C, Chen Z, Zhou D, Zhang B, Duan W, Zhao X, Wang X, You H, Ou X, Jia J, Huang J.
    Hepatol Int; 2023 Jun 06; 17(3):648-661. PubMed ID: 36729283
    [Abstract] [Full Text] [Related]

  • 12. 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 Jun 06; 27(1):279-84. PubMed ID: 11358388
    [Abstract] [Full Text] [Related]

  • 13. Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice.
    Delima RD, Chua AC, Tirnitz-Parker JE, Gan EK, Croft KD, Graham RM, Olynyk JK, Trinder D.
    Hepatology; 2012 Aug 06; 56(2):585-93. PubMed ID: 22383097
    [Abstract] [Full Text] [Related]

  • 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 06; 88(3):229-34. PubMed ID: 18762941
    [Abstract] [Full Text] [Related]

  • 15. Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
    Koyama C, Wakusawa S, Hayashi H, Suzuki R, Yano M, Yoshioka K, Kozuru M, Takayamam Y, Okada T, Mabuchi H.
    Haematologica; 2005 Mar 06; 90(3):302-7. PubMed ID: 15749661
    [Abstract] [Full Text] [Related]

  • 16. Hemochromatosis due to mutations in transferrin receptor 2.
    Roetto A, Daraio F, Alberti F, Porporato P, Calì A, De Gobbi M, Camaschella C.
    Blood Cells Mol Dis; 2002 Mar 06; 29(3):465-70. PubMed ID: 12547237
    [Abstract] [Full Text] [Related]

  • 17. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
    Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P.
    Blood Cells Mol Dis; 2015 Jun 06; 55(1):71-5. PubMed ID: 25976471
    [Abstract] [Full Text] [Related]

  • 18. Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?
    Chan V, Wong MS, Ooi C, Chen FE, Chim CS, Liang RH, Todd D, Chan TK.
    Blood Cells Mol Dis; 2003 Jun 06; 30(1):107-11. PubMed ID: 12667993
    [Abstract] [Full Text] [Related]

  • 19. Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors.
    Fracanzani AL, Piperno A, Valenti L, Fraquelli M, Coletti S, Maraschi A, Consonni D, Coviello E, Conte D, Fargion S.
    Hepatology; 2010 Feb 06; 51(2):501-10. PubMed ID: 20101754
    [Abstract] [Full Text] [Related]

  • 20. New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
    Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M.
    Genes (Basel); 2021 Dec 13; 12(12):. PubMed ID: 34946929
    [Abstract] [Full Text] [Related]

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