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Journal Abstract Search

383 related items for PubMed ID: 14673107

  • 21. HFE based re-evaluation of heterozygous hemochromatosis.
    Moirand R, Guyader D, Mendler MH, Jouanolle AM, Le Gall JY, David V, Brissot P, Deugnier Y.
    Am J Med Genet; 2002 Sep 01; 111(4):356-61. PubMed ID: 12210292
    [Abstract] [Full Text] [Related]

  • 22. Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
    Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E.
    Genet Test Mol Biomarkers; 2012 Jul 01; 16(7):656-60. PubMed ID: 22364140
    [Abstract] [Full Text] [Related]

  • 23. Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy.
    Hannuksela J, Leppilampi M, Peuhkurinen K, Kärkkäinen S, Saastamoinen E, Heliö T, Kaartinen M, Nieminen MS, Nieminen P, Parkkila S.
    Eur J Heart Fail; 2005 Jan 01; 7(1):103-8. PubMed ID: 15642540
    [Abstract] [Full Text] [Related]

  • 24. Increased C282Y heterozygosity in gestational diabetes.
    Cauza E, Hanusch-Enserer U, Bischof M, Spak M, Kostner K, Tammaa A, Dunky A, Ferenci P.
    Fetal Diagn Ther; 2005 Jan 01; 20(5):349-54. PubMed ID: 16113552
    [Abstract] [Full Text] [Related]

  • 25. Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney.
    Kaczorowska-Hac B, Sikorska K, Bielawski KP, Schramm K, Balcerska A.
    Int J Hematol; 2007 May 01; 85(4):300-3. PubMed ID: 17483072
    [Abstract] [Full Text] [Related]

  • 26. The role of HFE mutations on iron metabolism in beta-thalassemia carriers.
    Martins R, Picanço I, Fonseca A, Ferreira L, Rodrigues O, Coelho M, Seixas T, Miranda A, Nunes B, Costa L, Romão L, Faustino P.
    J Hum Genet; 2004 May 01; 49(12):651-655. PubMed ID: 15538648
    [Abstract] [Full Text] [Related]

  • 27. Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.
    Cézard C, Rabbind Singh A, Le Gac G, Gourlaouen I, Ferec C, Rochette J.
    Blood Cells Mol Dis; 2014 Jan 01; 52(1):27-34. PubMed ID: 23953397
    [Abstract] [Full Text] [Related]

  • 28. Genetic hemochromatosis, a Celtic disease: is it now time for population screening?
    Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J.
    Genet Test; 2001 Jan 01; 5(2):127-30. PubMed ID: 11551098
    [Abstract] [Full Text] [Related]

  • 29. Hemochromatosis in Ireland and HFE.
    Ryan E, O'keane C, Crowe J.
    Blood Cells Mol Dis; 1998 Dec 01; 24(4):428-32. PubMed ID: 9851896
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Frequency and spectrum of hemochromatosis mutations in Tunisia.
    Zorai A, Harteveld CL, Rachdi R, Dellagi K, Abbes S, Delbini P, Giordano PC.
    Hematol J; 2003 Sep 01; 4(6):433-5. PubMed ID: 14671616
    [Abstract] [Full Text] [Related]

  • 32. Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey.
    Yönal O, Hatirnaz O, Akyüz F, Köroğlu G, Ozbek U, Cefle K, Mungan Z.
    Turk J Gastroenterol; 2007 Mar 01; 18(1):53-7. PubMed ID: 17450498
    [Abstract] [Full Text] [Related]

  • 33. Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.
    Leão GD, Freire JM, Cunha Fernandes AL, Moura de Oliveira TM, Leão ND, Gil EA, de Vasconcelos RC, Azevedo JP, de Farias Sales VS, de Araújo Moura Lemos TM, Leão MD, do Nascimento FF, Maciel JF, de Freitas RV, de Souza Paiva A, Cavalcanti GB.
    J Clin Lab Anal; 2014 May 01; 28(3):178-85. PubMed ID: 24395214
    [Abstract] [Full Text] [Related]

  • 34. Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic.
    Cimburova M, Putova I, Provaznikova H, Horak J.
    Genet Epidemiol; 2002 Oct 01; 23(3):260-3. PubMed ID: 12384978
    [Abstract] [Full Text] [Related]

  • 35. Genetics of hemochromatosis.
    Cullen LM, Anderson GJ, Ramm GA, Jazwinska EC, Powell LW.
    Annu Rev Med; 1999 Oct 01; 50():87-98. PubMed ID: 10073265
    [Abstract] [Full Text] [Related]

  • 36. HFE mutations, hepatic iron, and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity.
    Chitturi S, Weltman M, Farrell GC, McDonald D, Kench J, Liddle C, Samarasinghe D, Lin R, Abeygunasekera S, George J.
    Hepatology; 2002 Jul 01; 36(1):142-9. PubMed ID: 12085358
    [Abstract] [Full Text] [Related]

  • 37. Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism.
    Gómez-Llorente C, Miranda-León MT, Blanco S, Gandia-Pla S, Gómez-Capilla JA, Fárez-Vidal ME.
    Ann Hematol; 2005 Oct 01; 84(10):650-5. PubMed ID: 15986199
    [Abstract] [Full Text] [Related]

  • 38. H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
    Ali-Rahmani F, Grigson PS, Lee S, Neely E, Connor JR, Schengrund CL.
    Neurobiol Aging; 2014 Jun 01; 35(6):1511.e1-12. PubMed ID: 24439478
    [Abstract] [Full Text] [Related]

  • 39. A 6-year survey of HFE gene test for hemochromatosis diagnosis.
    Mura C, Raguénes O, Scotet V, Jacolot S, Mercier AY, Férec C.
    Genet Med; 2005 Jan 01; 7(1):68-73. PubMed ID: 15654232
    [Abstract] [Full Text] [Related]

  • 40. HFE gene mutations in patients with altered iron metabolism in Argentina.
    Rossetti MV, Méndez M, Afonso S, Gerez E, Batlle A, Muñoz A, Parera V.
    Cell Mol Biol (Noisy-le-grand); 2009 Jul 01; 55(2):31-5. PubMed ID: 19656448
    [Abstract] [Full Text] [Related]

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