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Journal Abstract Search

193 related items for PubMed ID: 16257244

  • 1. Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.
    Bach V, Remacha A, Altés A, Barceló MJ, Molina MA, Baiget M.
    Blood Cells Mol Dis; 2006; 36(1):41-5. PubMed ID: 16257244
    [Abstract] [Full Text] [Related]

  • 2. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.
    Del-Castillo-Rueda A, Moreno-Carralero MI, Alvarez-Sala-Walther LA, Cuadrado-Grande N, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Eur J Haematol; 2011 Mar; 86(3):260-4. PubMed ID: 21175851
    [Abstract] [Full Text] [Related]

  • 3. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
    Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E.
    Blood Cells Mol Dis; 2005 Mar; 34(2):157-61. PubMed ID: 15727899
    [Abstract] [Full Text] [Related]

  • 4. SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
    Lee PL, Gelbart T, West C, Barton JC.
    Acta Haematol; 2007 Mar; 118(4):237-41. PubMed ID: 18160816
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Hereditary iron overload: update on pathophysiology, diagnosis, and treatment.
    Franchini M.
    Am J Hematol; 2006 Mar 15; 81(3):202-9. PubMed ID: 16493621
    [Abstract] [Full Text] [Related]

  • 7. [Non-HFE-related hereditary iron overload].
    Aguilar-Martinez P.
    Presse Med; 2007 Sep 15; 36(9 Pt 2):1279-91. PubMed ID: 17540536
    [Abstract] [Full Text] [Related]

  • 8. Rare types of genetic hemochromatosis.
    Camaschella C, Poggiali E.
    Acta Haematol; 2009 Sep 15; 122(2-3):140-5. PubMed ID: 19907151
    [Abstract] [Full Text] [Related]

  • 9. Non-HFE hemochromatosis.
    Pietrangelo A.
    Semin Liver Dis; 2005 Nov 15; 25(4):450-60. PubMed ID: 16315138
    [Abstract] [Full Text] [Related]

  • 10. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
    Griffiths WJ, Mayr R, McFarlane I, Hermann M, Halsall DJ, Zoller H, Cox TM.
    Hepatology; 2010 Mar 15; 51(3):788-95. PubMed ID: 19937651
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 15; 38(1):37-44. PubMed ID: 17098454
    [Abstract] [Full Text] [Related]

  • 12. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
    Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A.
    J Clin Invest; 2001 Aug 15; 108(4):619-23. PubMed ID: 11518736
    [Abstract] [Full Text] [Related]

  • 13. Iron overload in the Asian community.
    Lok CY, Merryweather-Clarke AT, Viprakasit V, Chinthammitr Y, Srichairatanakool S, Limwongse C, Oleesky D, Robins AJ, Hudson J, Wai P, Premawardhena A, de Silva HJ, Dassanayake A, McKeown C, Jackson M, Gama R, Khan N, Newman W, Banait G, Chilton A, Wilson-Morkeh I, Weatherall DJ, Robson KJ.
    Blood; 2009 Jul 02; 114(1):20-5. PubMed ID: 19342478
    [Abstract] [Full Text] [Related]

  • 14. Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
    Altès A, Bach V, Ruiz A, Esteve A, Remacha AF, Sardà MP, Felez J, Baiget M.
    Ann Hematol; 2009 Apr 02; 88(4):341-5. PubMed ID: 18820912
    [Abstract] [Full Text] [Related]

  • 15. The molecular pathogenesis of hereditary hemochromatosis.
    Babitt JL, Lin HY.
    Semin Liver Dis; 2011 Aug 02; 31(3):280-92. PubMed ID: 21901658
    [Abstract] [Full Text] [Related]

  • 16. Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.
    Fleming RE, Sly WS.
    J Clin Invest; 2001 Aug 02; 108(4):521-2. PubMed ID: 11518724
    [No Abstract] [Full Text] [Related]

  • 17. 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 02; 84(10):646-9. PubMed ID: 15871018
    [Abstract] [Full Text] [Related]

  • 18. Intestinal absorption of iron in HFE-1 hemochromatosis: local or systemic process?
    Brissot P, Troadec MB, Loréal O.
    J Hepatol; 2004 Apr 02; 40(4):702-9. PubMed ID: 15030990
    [No Abstract] [Full Text] [Related]

  • 19. Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.
    Praschberger R, Schranz M, Griffiths WJ, Baumgartner N, Hermann M, Lomas DJ, Pietrangelo A, Cox TM, Vogel W, Zoller H.
    Biochim Biophys Acta; 2014 Sep 02; 1842(9):1406-12. PubMed ID: 24859227
    [Abstract] [Full Text] [Related]

  • 20. 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 02; 55(1):71-5. PubMed ID: 25976471
    [Abstract] [Full Text] [Related]

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