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Journal Abstract Search

287 related items for PubMed ID: 20843714

  • 21. 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; 8(3):263-7. PubMed ID: 15727249
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  • 22. Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis.
    Lawless MW, White M, Mankan AK, O'Dwyer MJ, Norris S.
    Tissue Antigens; 2007 Oct; 70(4):294-300. PubMed ID: 17767550
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  • 23. 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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  • 24. HFE genotyping in patients with elevated serum iron indices and liver diseases.
    Evangelista AS, Nakhle MC, de Araújo TF, Abrantes-Lemos CP, Deguti MM, Carrilho FJ, Cançado EL.
    Biomed Res Int; 2015 Sep 01; 2015():164671. PubMed ID: 25654085
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  • 25. [Molecular genetic diagnostics and screening of hereditary hemochromatosis].
    Zlocha J, Kovács L, Pozgayová S, Kupcová V, Durínová S.
    Vnitr Lek; 2006 Jun 01; 52(6):602-8. PubMed ID: 16871764
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  • 26. Hereditary hemochromatosis: the clinical significance of the S65C mutation.
    Asberg A, Thorstensen K, Hveem K, Bjerve KS.
    Genet Test; 2002 Jun 01; 6(1):59-62. PubMed ID: 12180078
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  • 27. Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers.
    Macedo MF, Cruz E, Lacerda R, Porto G, de Sousa M.
    Blood Cells Mol Dis; 2005 Jun 01; 35(3):319-25. PubMed ID: 16140024
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  • 28. Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
    Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, Mercier AY, Rochette J, Férec C.
    Blood Cells Mol Dis; 2003 Jun 01; 30(3):231-7. PubMed ID: 12737937
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  • 29. A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.
    Padula MC, Martelli G, Larocca M, Rossano R, Olivieri A.
    Blood Cells Mol Dis; 2014 Sep 01; 53(3):138-43. PubMed ID: 24920245
    [Abstract] [Full Text] [Related]

  • 30. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.
    Sham RL, Ou CY, Cappuccio J, Braggins C, Dunnigan K, Phatak PD.
    Blood Cells Mol Dis; 1997 Aug 01; 23(2):314-20. PubMed ID: 9410475
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  • 34. HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes.
    Raddatz D, Legler T, Lynen R, Addicks N, Ramadori G.
    Z Gastroenterol; 2003 Nov 01; 41(11):1069-76. PubMed ID: 14648375
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  • 35. Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.
    Carroll GJ.
    J Clin Rheumatol; 2006 Jun 01; 12(3):109-13. PubMed ID: 16755236
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  • 37. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.
    Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, You H, Huang J, Ou X, Jia J, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group.
    Orphanet J Rare Dis; 2022 Jun 06; 17(1):216. PubMed ID: 35668470
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  • 40. [Iron overload disease: recent findings].
    Licata A, Brucato V, Di Marco V, Barbaria F, Craxì A.
    Ann Ital Med Int; 2004 Jun 06; 19(3):145-54. PubMed ID: 15529941
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