|An overview of molecular basis of iron metabolism regulation and the associated pathologies|
B Silva, P Faustino
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (7 …, 2015
|Epidemiology of haemoglobin disorders in Europe: an overview|
B Modell, M Darlison, H Birgens, H Cario, P Faustino, PC Giordano, ...
Scandinavian journal of clinical and laboratory investigation 67 (1), 39-70, 2007
|Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach|
B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ...
Nature genetics 43 (4), 295-301, 2011
|Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay|
A Inácio, AL Silva, J Pinto, X Ji, A Morgado, F Almeida, P Faustino, ...
Journal of Biological Chemistry 279 (31), 32170-32180, 2004
|Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation|
L Romao, Â Inácio, S Santos, M Avila, P Faustino, P Pacheco, J Lavinha
Blood, The Journal of the American Society of Hematology 96 (8), 2895-2901, 2000
|Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia|
S Mettananda, CA Fisher, D Hay, M Badat, L Quek, K Clark, P Hublitz, ...
Nature communications 8 (1), 424, 2017
|Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation|
ÂC Crespo, B Silva, L Marques, E Marcelino, C Maruta, S Costa, ...
Neurobiology of aging 35 (4), 777-785, 2014
|Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population|
P Faustino, L Osório-Almeida, J Barbot, D Espírito-Santo, J Gonçalves, ...
Human genetics 89, 573-576, 1992
|The peopling of Sao Tome (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese|
G Tomás, L Seco, S Seixas, P Faustino, J Lavinha, J Rocha
Human Biology, 397-411, 2002
|Novel large deletions in the human α-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment|
A Coelho, I Picanço, F Seuanes, MT Seixas, P Faustino
Blood Cells, Molecules, and Diseases 45 (2), 147-153, 2010
|The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context|
AL Silva, FJC Pereira, A Morgado, J Kong, R Martins, P Faustino, ...
Rna 12 (12), 2160-2170, 2006
|The role of HFE mutations on iron metabolism in beta-thalassemia carriers|
R Martins, I Picanco, A Fonseca, L Ferreira, O Rodrigues, M Coelho, ...
Journal of human genetics 49 (12), 651-655, 2004
|Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes|
AI Mendes, A Ferro, R Martins, I Picanço, S Gomes, R Cerqueira, ...
Annals of hematology 88, 229-234, 2009
|Importation route of the sickle cell trait into Portugal: Contribution of molecular epidemiology|
J Lavinha, J Gonçalves, P Faustino, L Romão, L Osório-Almeida, ...
Human biology, 891-901, 1992
|Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers|
J Alves, P Machado, J Silva, N Gonçalves, L Ribeiro, P Faustino, ...
Blood Cells, Molecules, and Diseases 44 (1), 62-68, 2010
|Mutational spectrum of delta‐globin gene in the Portuguese population|
A Morgado, I Picanço, S Gomes, A Miranda, M Coucelo, F Seuanes, ...
European journal of haematology 79 (5), 422-428, 2007
|The geographic pattern of β‐thalassaemia mutations in the Portuguese population|
P Faustino, P Pacheco, P Loureiro, PJ Nogueira, J Lavinha
British Journal of Haematology 107 (4), 903-904, 1999
|beta-Thalassemia mutation at-90C--> T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors|
P Faustino, J Lavinha, MG Marini, P Moi
|Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity|
S David, V Correia, L Antunes, R Faria, J Ferrão, P Faustino, B Nunes, ...
Immunogenetics 70, 169-177, 2018
|Differential HFE Gene Expression Is Regulated by Alternative Splicing in Human Tissues|
R Martins, B Silva, D Proenca, P Faustino
PLoS One 6 (3), e17542, 2011