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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Faustino, Paula
Showing results 21 to 40 of 44
| Issue Date | Title | Author(s) | | 8-Oct-2012 | Investigação em doenças mendelianas: o exemplo das hemoglobinopatias e hemocromatose hereditária | Faustino, Paula |
| Jun-2012 | Iron/copper metabolism in Alzheimer’s disease: genetics and biomarkers in a Portuguese population | C. Crespo, Ângela; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela; Vilares, Arminda; Silva, Bruno; Simões Couto, Frederico; Faustino, Paula; Correia, Ana Paula; Verdelho, Ana; Porto, Graça; Guerreiro, Manuela; Herrero, Ana; Costa, Cristina; de Mendonça, Alexandre; Costa, Luciana; Martins, Madalena |
| Apr-2013 | Iron Related Gene Expression and Biochemical Phenotype Support Iron Homeostasis Dysregulation in Alzheimer’s Disease | Crespo, Ângela; Silva, Bruno; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Ângela; Vilares, Arminda; Couto, Frederico; Faustino, Paula; Correia, Ana; Verdelho, Ana; Porto, Graça; Guerreiro, Manuela; Herrero, Ana; Costa, Cristina; Mendonça, Alexandre; Martins, Madalena; Luciana, Costa |
| Nov-2014 | Next Generation Sequencing of six iron-metabolism related genes in Portuguese patients with iron overload and a negative Hereditary Hemochromatosis-first level genetic test: a pilot study | Faria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luís; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Fleming, Rita; Faustino, Paula |
| Nov-2011 | Novel and rare large deletions in the globin gene clusters causing different types of thalassemia | Coelho, Andreia; Fernandes, Emília; Batalha-Reis, Ana; Sonesson, Annika; Picanço, Isabel; Miranda, Armandina; Faustino, Paula |
| Apr-2011 | A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old woman | Reis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, Esmeraldina |
| 2-Apr-2014 | O papel da Genética Humana na Saúde Pública – o exemplo das Hemoglobinopatias e da Hemocromatose Hereditária | Faustino, Paula |
| Nov-2012 | Pesquisa e caracterização de mutações em genes relacionados com o metabolismo do ferro em individuos com hiperferritinemia grave | Faustino, Paula; Silva, Bruno; Viegas-Crespo, Ana; Santos, Vera |
| Apr-2011 | Post-transcriptional regulation of HFE gene expression | Faustino, Paula; Romão, Luísa; Martins, Rute |
| 26-Oct-2012 | Sickle cell disease severity scoring: a yet unsolved problem | Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João |
| 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 |
| 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 |
| Apr-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 |
| 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 |
| Apr-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 |
| 13-Dec-2013 | The functional link between HFE and hepcidin- its contribution to iron metabolism regulation | Faustino, Paula; Zilhão, Rita; Silva, Bruno |
| 2012 | The functional significance of E277K and V295A HFE mutations | Silva, Bruno; Martins, Rute; Proença, Daniela; Fleming, Rita; Faustino, Paula |
| 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 |
| 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 |
| 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 |
Showing results 21 to 40 of 44
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