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Class of 1996
Cardoso, Carla Sofia
1st Degree
About the PhD
Field of Research
Human Genetics, Immunology, Immunogentics
Thesis Title
Frequency of the C282Y and the H63D HFE mutations in Portugal. Influence of the HFE mutations on the shaping of the T cell pools and the T cell receptor repertoire.
Maria de Sousa
Date of Thesis Defence

Relevant Publications
Cardoso C, Porto G, Lacerda R, Resende D, Rodrigues P, Bravo F, Oliveira JC, Justica B, de Sousa M. 2001. T-cell receptor repertoire in hereditary hemochromatosis: a study of 32 hemochromatosis patients and 274 healthy subjects. Hum Immunol 62:488-99.
Cardoso CS, Oliveira P, Porto G, Oberkanins C, Mascarenhas M, Rodrigues P, Kury F, De Sousa M. 2001. Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal. Eur J Hum Genet 9:843-848.
Cardoso CS, Alves H, Mascarenhas M, Gonšalves R, Oliveira P, Rodrigues P, Cruz E, de Sousa M, Porto G. 2002. Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? Immunogenetics. 53:1002-8.
Cardoso CS, de Sousa M. 2003. HFE, the MHC and Hemochromatosis. Paradigm for an extended function for MHC class I. Tissue Antigens. 61:263-275.
Cardoso CS, Ara˙jo HC, Cruz E, Afonso A, Mascarenhas C, Almeida S, Moutinho J, Lopes C, Medeiros R. 2006. Haemochromatosis gene (HFE) mutations in viral-associated neoplasia: Linkage to cervical cancer. Biochem Biophys Res Commun. 341:232-8.

Arosa FA, Porto G, Cabeda JM, Lacerda R, Resende D, Cruz E, Cardoso C, Fonseca M, Sim§es C, Rodrigues P, Bravo F, Oliveira JC, Alves H, Fraga J, Justiša B, De Sousa M. 2000. Expansions of CD8+CD28- and CD8+TcRVb5.2+ T cells in peripheral blood of heavy alcohol drinkers. Alcoholism: Clinical and Experimental Research 24:519-527.
Porto G, Cardoso CS, Gordeuk V, Cruz E, Fraga J, Areias J, Oliveira JC, Bravo F, Gangaidzo IT, MacPhail AP, Gomo ZAR, Moyo VM, Melo G, Silva C, Justiša B, de Sousa M. 2001. Clinical and genetic heterogeneity in hereditary hemochromatosis: association between lymphocyte counts and expression of iron overload. Eur J Haematol 67:110-118.
De Almeida SF, Carvalho IF, Cardoso CS, Cordeiro VC, Azevedo JE, Neefjes J, de Sousa M. 2005. HFE crosstalks with the MHC-class I antigen presentation pathway. Blood 106:971-977.
Cruz E, Vieira J, Almeida S, Lacerda R, Gartner A, Cardoso CS, Alves H, Porto G. 2006. A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload. BMC Med Genet. 7:16 [Epub ahead of print].
Gomes-Neves E, Ara˙jo AC, Ramos E, Cardoso CS. 2007. Food handling: comparative analysis of general knowledge and practice in three relevant groups in Portugal. Food control 18:707-712.

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