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Browsing by Author Faustino, Paula

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Issue DateTitleAuthor(s)
Apr-2013Clinical impact of HFE Mutations in portuguese patients with Chronic Hepatitis CFerreira, Joana; Baldaia, Cilénia; Inácio, Ângela; Bicho, Manuel; Velosa, José; Faustino, Paula; Serejo, Fátima
3-Mar-2011Differential HFE Gene Expression is Regulated by Alternative Splicing in Human TissuesMartins, Rute; Silva, Bruno; Proença, Daniela; Faustino, Paula
Apr-2013Duodenal Cytochrome B and Hephaestin Expression is Regulated by the Soluble HFE IsoformSilva, Bruno; Martins, Rute; Proença, Daniela; Faustino, Paula
5-Apr-2008Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphismMartins, Rute; Morais, Anabela; Dias, Alexandra; Soares, Isabel; Rolão, Cristiana; Ducla-Soares, JL; Braga, Lígia; Seixas, Teresa; Nunes, Baltazar; Olim, Gabriel; Romão, Luísa; Lavinha, João; Faustino, Paula
Jun-2013Expression of iron metabolism-related genes is altered in Familial Hypercholesterolemia patientsMateus, Ana; Silva, Bruno; Marques, Liliana; Faustino, Paula; Bourbon, Mafalda; Costa, Luciana
28-Nov-2013Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal studyCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Ferreira, Emanuel; Picanço, Isabel; Faustino, Paula; Lavinha, João
Oct-2012Haemolysis in sickle cell anaemia: a genotype/phenotype association studyLavinha, João; Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Ferreira, Emanuel; Picanço, Isabel; Nunes, Baltazar; Faustino, Paula
Nov-2011Hepcidin Gene Promoter c.-1010T and c.-582G Variants are Modulators of Iron Overload Development in Individuals Carrying the H63D Mutation in the HFE GeneSilva, Bruno; Pita, Lina; Gomes, Susana; Gonçalves, João; Faustino, Paula
8-Oct-2012Investigação em doenças mendelianas: o exemplo das hemoglobinopatias e hemocromatose hereditáriaFaustino, Paula
Jun-2012Iron/copper metabolism in Alzheimer’s disease: genetics and biomarkers in a Portuguese populationC. 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-2013Iron Related Gene Expression and Biochemical Phenotype Support Iron Homeostasis Dysregulation in Alzheimer’s DiseaseCrespo, 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-2011Novel and rare large deletions in the globin gene clusters causing different types of thalassemiaCoelho, Andreia; Fernandes, Emília; Batalha-Reis, Ana; Sonesson, Annika; Picanço, Isabel; Miranda, Armandina; Faustino, Paula
Apr-2011A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old womanReis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, Esmeraldina
Nov-2012Pesquisa e caracterização de mutações em genes relacionados com o metabolismo do ferro em individuos com hiperferritinemia graveSantos, Vera
Apr-2011Post-transcriptional regulation of HFE gene expressionMartins, Rute
26-Oct-2012Sickle cell disease severity scoring: a yet unsolved problemCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João
Nov-2012Sickle cell disease severity scoring: cross-validation between a disease severity score and a paediatric severity scoreCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João
Nov-2012A soluble HFE splice variant seems to regulate the expression of duodenal cytochrome b and hephaestin contributing to iron metabolism regulationSilva, Bruno; Martins, Rute; Proença, Daniela; Faustino, Paula
Apr-2011Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachGiardine, 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-2011The effect of genetic polymorphisms in trans-acting factor genes as modulators of fetal hemoglobin level in sickle cell diseaseCoelho, Andreia; Miranda, Armandina; Ferreira, Emanuel; Faustino, Paula
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