Browsing by Author Faustino, Paula

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Issue DateTitleAuthor(s)TypeAccess Type
Nov-2014Haemolysis in sickle cell anaemia: a genotype/phenotype association studyCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Ferreira, Emanuel; Picanço, Isabel; Faustino, Paula; Lavinha, JoãoconferenceObjectopenAccess
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, PaulaconferenceObjectopenAccess
23-Oct-2015Hemoglobinopatias: a que casais oferecer o diagnóstico pré-natal?Gonçalves, João; Loureiro, Pedro; Gomes, Susana; Faustino, PaulaconferenceObjectopenAccess
Jun-2016Hemorheological alterations in sickle cell anemia and their clinical consequences: the role of genetic modulatorsSilva, Marisa; Vargas, Sofia; Coelho, Andreia; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Maia, Raquel; Kjollerstrom, Paula; Lavinha, João; Faustino, PaulaconferenceObjectembargoedAccess
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, PaulaconferenceObjectopenAccess
24-Jun-2010HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosisBettencourt, A; Silva, AM; Santos, E; Gomes, S; Mendonça, D; Costa, PP; Faustino, Paula; Silva, BMarticlerestrictedAccess
8-Oct-2012Investigação em doenças mendelianas: o exemplo das hemoglobinopatias e hemocromatose hereditáriaFaustino, PaulalectureopenAccess
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, CostaconferenceObjectopenAccess
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, MadalenaconferenceObjectopenAccess
Aug-2015May the polymorphisms of iron metabolism modulate metabolic and bone remodelling parameters associated with osteoporosis?Ferreira, Joana; Silva, Bruno; Faustino, Paula; Monteiro, Cristina; Barbosa, Ana Paula; Batista, Fátima; Laires, Maria José; Bicho, Manuel; Mascarenhas, Mário RuiconferenceObjectopenAccess
Nov-2014Next 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 studyFaria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luís; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Fleming, Rita; Faustino, PaulaconferenceObjectembargoedAccess
Apr-2016Next-generation sequencing of iron-metabolism related genes in Portuguese patients with iron overload: novel pathogenic genetic variantsFaria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luis; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Rivera, Isabel; Fraga, Sofia; Fleming, Rita; Faustino, PaulaconferenceObjectopenAccess
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, PaulaconferenceObjectopenAccess
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, EsmeraldinaconferenceObjectopenAccess
2-Apr-2014O papel da Genética Humana na Saúde Pública – o exemplo das Hemoglobinopatias e da Hemocromatose HereditáriaFaustino, PaulalecturerestrictedAccess
26-Oct-2012Sickle cell disease severity scoring: a yet unsolved problemCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, JoãoarticlerestrictedAccess
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, JoãoconferenceObjectopenAccess
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, PaulaconferenceObjectopenAccess
Nov-2015Stroke in children with sickle cell disease: advances in understanding its molecular pathogenesisVargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, PaulaconferenceObjectopenAccess
Nov-2015Stroke risk in children with sickle cell anemia – the importance of genetic modulators of hemolysisVargas, Sofia; Coelho, Andreia; Maia, Raquel; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Mota-Soares, Isabel; Lavinha, João; Kjollerstrom, Paula; Faustino, PaulaconferenceObjectopenAccess