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Author Title [ Type(Desc)] Year
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Journal Article
Spínola, C., Bruges-Armas, J., Pereira, C., Brehm, A., & Spínola, H. (2009). Alpha-1-antitrypsin deficiency in Madeira (Portugal): The highest prevalence in the world. Respiratory Medicine, 103(10), 1498 - 1502.
Dutra, I., Santos, M. R., Soares, M., Couto, A. R., et al. (2008). Characterisation of human papillomavirus (HPV) genotypes in the Azorean population, Terceira island. Infectious Agents and Cancer, 3(1).
Jordana, X., Galtés, I., Couto, A. R., Gales, L., et al. (2009). The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis - A postmortem diagnosis. Clinical Rheumatology, 28(3), 353 - 356.
Spínola, H., Bruges-Armas, J., & Brehm, A. (2007). Discrepancies in HLA typing by PCR-SSOP and SBT techniques: A case study. Human Biology, 79(5), 537 - 543.
Habibi, A., Farrokhi, N., Silva, F. M. D., Bettencourt, B. F., et al. (2010). The effects of vitrification on gene expression in mature mouse oocytes by nested quantitative PCR. Journal of Assisted Reproduction and Genetics, 27(11), 599 - 604.
Bettencourt, B. F., Santos, M. R., Fialho, R. N., Couto, A. R., et al. (2008). Evaluation of two methods for computational HLA haplotypes inference using a real dataset. BMC Bioinformatics, 9.
Santos, C., Alvarez, L., Aluja, M. P., Bruges-Armas, J., & Lima, M. (2009). Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci. Collegium antropologicum, 33(4), 991 - 999.
Díaz-Peña, R., Aransay, A. M., Suárez-Álvarez, B., Bruges-Armas, J., et al. (2012). A high density SNP genotyping approach within the 19q13 chromosome region identifies an association of a CNOT3 polymorphism with ankylosing spondylitis. Annals of the Rheumatic Diseases, 71(5), 714 - 717.
Spínola, H., Brehm, A., Bettencourt, B., Middleton, D., & Bruges-Armas, J. (2005). HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands. Tissue Antigens, 66(3), 217 - 230.
Spínola, H., Couto, A. R., Peixoto, M. J., Anagnostou, P., et al. (2011). HLA Class-I Diversity in Cameroon: Evidence for a North-South Structure of Genetic Variation and Relationships with African Populations. Annals of Human Genetics, 75(6), 665 - 677.
Spínola, H., Bruges-Armas, J., Middleton, D., & Brehm, A. (2005). HLA polymorphisms in Cabo Verde and Guiné-Bissau inferred from sequence-based typing. Human Immunology, 66(10), 1082 - 1092.
Spínola, C., Bruges-Armas, J., Brehm, A., & Spínola, H. (2008). HLA-A polymorphisms in four ethnic groups from Guinea-Bissau (West Africa) inferred from sequence-based typing. Tissue Antigens, 72(6), 593 - 598.
Evans, D. M., Spencer, C. C. A., Pointon, J. J., Su, Z., et al. (2011). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature Genetics, 43(8), 761 - 767.
Couto, A. R., Zhang, Y., Timms, A., Bruges-Armas, J., et al. (2012). Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International, 32(9), 2745 - 2751.
Raposo, M., Bettencourt, C., MacIel, P., Gao, F., et al. (2015). Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. Movement Disorders, 30(7), 968 - 975.
Dutra, I. F., Bettencourt, B. F., Fialho, R. N., Couto, A. R., et al. (2010). Novel fast reverse transcriptase PCR assay for molecular detection of human influenza A (H1N1) virus. Journal of Clinical Microbiology, 48(5), 1985 - 1986.
Couto, A. R., Bruges-Armas, J., Peach, C. A., Chapman, K., et al. (2007). A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcified Tissue International, 81(2), 81 - 84.
Sims, A. - M., Timms, A. E., Bruges-Armas, J., Burgos-Vargas, R., et al. (2008). Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Annals of the Rheumatic Diseases, 67(9), 1305 - 1309.
Bettencourt, B. F., Rocha, F. L., Alves, H., Amorim, R., et al. (2013). Protective effect of an ERAP1 haplotype in ankylosing spondylitis: Investigating non-MHC genes in HLA-B27-positive individuals. Rheumatology (United Kingdom), 52(12), 2168 - 2176.
Fialho, R. N., Martins, L., Pinheiro, J. P., Bettencourt, B. F., et al. (2009). Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis. Human Immunology, 70(11), 915 - 920.
Bettencourt, C., Fialho, R. N., Santos, C., Montiel, R., et al. (2008). Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal). Journal of Human Genetics, 53(4), 333 - 339.
Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum, 11(4), 1045 - 1050.
Canhão, H., Rodrigues, A. M., Santos, M. J., Carmona-Fernandes, D., et al. (2015). TRAF1/C5 but not PTPRC variants are potential predictors of rheumatoid arthritis response to anti-tumor necrosis factor therapy. BioMed Research International, 2015.
Bettencourt, C., Raposo, M., Ros, R., Montiel, R., et al. (2013). Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions. Journal of Molecular Neuroscience, 49(3), 539 - 543.

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