Export 9 results:
Author Title [ Type(Desc)] Year
Filters: Author is Santos, R.  [Clear All Filters]
Journal Article
Rodrigues, C., Rocha, S., Nascimento, H., Vieira, E., et al. (2013). Bilirubin levels and redox status in a young healthy population. Acta Haematologica, 130(1), 57 - 60.
Maia, N., Loureiro, J. R., Oliveira, B., Marques, I., et al. (2017). Contraction of fully expanded FMR1 alleles to the normal range: Predisposing haplotype or rare events?. Journal of Human Genetics, 62(2), 269 - 275.
Azevedo, E., Santos, R., Freitas, J., Rosas, M. - J., et al. (2010). Deep brain stimulation does not change neurovascular coupling in non-motor visual cortex: An autonomic and visual evoked blood flow velocity response study. Parkinsonism and Related Disorders, 16(9), 600 - 603.
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Rodrigues, C., Vieira, E., Santos, R., de Carvalho, J., et al. (2012). Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells, Molecules, and Diseases, 48(3), 166 - 172.
Oliveira, J., Santos, R., Soares-Silva, I., Jorge, P., et al. (2008). LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical Genetics, 74(6), 502 - 512.
Vernengo, L., Oliveira, J., Krahn, M., Vieira, E., et al. (2011). Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America. Neuromuscular Disorders, 21(5), 328 - 337.
Ribeiro, S., Faria, M. D. S., Silva, G., Nascimento, H., et al. (2012). Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: Influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene. Hemodialysis International, 16(4), 481 - 490.
Santos, R., Oliveira, J., Vieira, E., Coelho, T., et al. (2010). Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51. Journal of Human Genetics, 55(8), 546 - 549.

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