Mostrar resultados 56-75 de 78.
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Data | Título | Autor(es) | Tipo | Acesso |
2-Abr-2014 | O papel da Genética Humana na Saúde Pública – o exemplo das Hemoglobinopatias e da Hemocromatose Hereditária | Faustino, Paula | lecture |  |
8-Fev-2017 | Patologias associadas à desregulação do metabolismo do ferro (do excesso ao défice) e hemoglobinopatias | Faustino, Paula | lecture |  |
2016 | Sickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parameters | Aguiar, Laura; Matos, Andreia; Gil, Ângela; Afonso, Conceição; Braga, Lígia; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula; Bicho, Manuel; Inácio, Ângela | article |  |
Jun-2016 | Sickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parameters | Aguiar, Laura; Matos, Andreia; Gil, Ângela; Afonso, Conceição; Braga, Lígia; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula; Bicho, Manuel; Inácio, Ângela | conferenceObject |  |
26-Out-2012 | Sickle cell disease severity scoring: a yet unsolved problem | Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João | article |  |
Nov-2012 | Sickle cell disease severity scoring: cross-validation between a disease severity score and a paediatric severity score | Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João | conferenceObject |  |
Abr-2017 | Síndrome hereditária hiperferritinemia-cataratas: conhecer para diagnosticar | Martins, Rosa; Martins, Rita; Queiroz, Ana Margarida; Faustino, Paula; G. Ferreira, Maria | article |  |
Nov-2012 | A soluble HFE splice variant seems to regulate the expression of duodenal cytochrome b and hephaestin contributing to iron metabolism regulation | Silva, Bruno; Martins, Rute; Proença, Daniela; Faustino, Paula | conferenceObject |  |
Nov-2015 | Stroke in children with sickle cell disease: advances in understanding its molecular pathogenesis | Vargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula | conferenceObject |  |
Nov-2015 | Stroke risk in children with sickle cell anemia – the importance of genetic modulators of hemolysis | Vargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula | conferenceObject |  |
Abr-2011 | Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach | Giardine, Belinda; Borg, Joseph; Higgs, Douglas R; Peterson, Kenneth; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda; Anstee, David J; Basak, Nazli; Clark, Barnaby; Costa, Flavia C; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E; Francina, Alain; Galanello, Renzo; Gallivan, Monica VE; Georgitsi, Marianthi; Gibbons, Richard J; Giordano, Piero C; Harteveld, Cornelis L; Hoyer, James D; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussous N; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Wayne, John S; Wiemann, Claudia; Zukic, Branda; Chui, David HK; Wajcman, Henri; Hardison, Ross C; Patrinos, George P | article |  |
Nov-2011 | The effect of genetic polymorphisms in trans-acting factor genes as modulators of fetal hemoglobin level in sickle cell disease | Coelho, Andreia; Miranda, Armandina; Ferreira, Emanuel; Faustino, Paula | conferenceObject |  |
Abr-2014 | The expression of the soluble HFE corresponding transcript is up-regulated by intracellular iron and inhibits iron absorption in a duodenal cell model | Silva, Bruno; Ferreira, Joana; Santos, Vera; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula | conferenceObject |  |
2012 | The functional significance of E277K and V295A HFE mutations | Silva, Bruno; Martins, Rute; Proença, Daniela; Fleming, Rita; Faustino, Paula | article |  |
Nov-2014 | The physiological role of the soluble HFE isoform – a regulator of dietary iron absorption in the duodenum | Silva, Bruno; Ferreira, Joana; Santos, Vera; Sousa, Patrícia; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula | conferenceObject |  |
Nov-2014 | The role of TMPRSS6 gene variants in different types of iron deficiency anaemia - from the rare severe hereditary IRIDA to the common mild acquired IDA | Gonçalves, Lúcia; Nobre Jesus, Gustavo; Afonso, Celina; Vieira, Albertina; Maia, Raquel; Correia, Leonor; Faustino, Paula | conferenceObject |  |
27-Jul-2014 | The soluble form of HFE protein regulates hephaestin mRNA expression in the duodenum through an endocytosis-dependent mechanism | Silva, Bruno; Ferreira, Joana; Santos, Vera; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula | article |  |
Set-2014 | The soluble HFE isoform – a regulator of iron absorption in the duodenum | Silva, Bruno; Ferreira, Joana; Santos, Vera; Sousa, Patícia; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula | conferenceObject |  |
22-Jun-2017 | Unusual molecular mechanisms in the origin of alpha-thalassemia | Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, Ana; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; F. Lacerda, João; Lavinha, João; Gonçalves, João; Faustino, Paula | conferenceObject |  |
Abr-2014 | Variação genética associada ao nível de hemólise crónica na drepanocitose: um estudo longitudinal | Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Ferreira, Emanuel; Picanço, Isabel; Faustino, Paula; Lavinha, João | article |  |