Contraction of fully expanded FMR1 alleles to the normal range: Predisposing haplotype or rare events? - Maia, N.; Loureiro, J.R.; Oliveira, B.; Marques, I.; Santos, R.; Jorge, P.; Martins, S. (Journal of Human Genetics, 2017)

Bilirubin levels and redox status in a young healthy population - Rodrigues, C.; Rocha, S.; Nascimento, H.; Vieira, E.; Santos, R.; Santos-Silva, A.; Costa, E.; Bronze-da-Rocha, E. (Acta Haematologica, 2013)

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects - Rodrigues, C.; Vieira, E.; Santos, R.; de Carvalho, J.; Santos-Silva, A.; Costa, E.; Bronze-da-Rocha, E. (Blood Cells, Molecules, and Diseases, 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 - Ribeiro, S.; Faria, M.D.S.; Silva, G.; Nascimento, H.; Rocha-Pereira, P.; Miranda, V.; Vieira, E.; Santos, R.; Mendonça, D.; Quintanilha, A.; Costa, E.; Belo, L.; et al. (Hemodialysis International, 2012)

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes - Seixas, A.I.; Vale, J.; Jorge, P.; Marques, I.; Santos, R.; Alonso, I.; Fortuna, A.M.; Pinto-Basto, J.; Coutinho, P.; Margolis, R.L.; Sequeiros, J.; Silveira, I. (Behavioral and Brain Functions, 2011)

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America - Vernengo, L.; Oliveira, J.; Krahn, M.; Vieira, E.; Santos, R.; Carrasco, L.; Negrão, L.; Panuncio, A.; Leturcq, F.; Labelle, V.; Bronze-da-Rocha, E.; Mesa, R.; et al. (Neuromuscular Disorders, 2011)

Deep brain stimulation does not change neurovascular coupling in non-motor visual cortex: An autonomic and visual evoked blood flow velocity response study - Azevedo, E.; Santos, R.; Freitas, J.; Rosas, M.-J.; Gago, M.; Garrett, C.; Rosengarten, B. (Parkinsonism and Related Disorders, 2010)

Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51 - Santos, R.; Oliveira, J.; Vieira, E.; Coelho, T.; Carneiro, A.L.; Evangelista, T.; Dias, C.; Fortuna, A.; Geraldo, A.; Negro, L.; Guimares, A.; Bronze-da-Rocha, E. (Journal of Human Genetics, 2010)

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients - Oliveira, J.; Santos, R.; Soares-Silva, I.; Jorge, P.; Vieira, E.; Oliveira, M.E.; Moreira, A.; Coelho, T.; Ferreira, J.C.; Fonseca, M.J.; Barbosa, C.; Prats, I.; et al. (Clinical Genetics, 2008)