Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

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
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
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
2012	The functional significance of E277K and V295A HFE mutations	Silva, Bruno; Martins, Rute; Proença, Daniela; Fleming, Rita; Faustino, Paula
Sep-2011	Variants of Hepcidin Gene Promoter Modulate Iron Status in H63d Individuals	Silva, Bruno; Pita, Lina; Faustino, Paula

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