Mostrar resultados 45-64 de 78.
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| Data | Título | Autor(es) | Tipo | Acesso |
| 8-Out-2012 | Investigação em doenças mendelianas: o exemplo das hemoglobinopatias e hemocromatose hereditária | Faustino, Paula | lecture |  |
| 19-Abr-2017 | Iron Refractory Iron Deficiency Anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemia | Pinto, Joana; Nobre de Jesus, Gustavo; Palma Anselmo, Mónica; Gonçalves, Lúcia; Brás, Daniela; Madeira Lopes, João; Meneses, João; Victorino, Rui; Faustino, Paula | article | |
| Abr-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 | conferenceObject | |
| 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 | conferenceObject | |
| Ago-2015 | May 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 Rui | conferenceObject | |
| 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 | conferenceObject |  |
| Out-2016 | Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese population | Faria, Ricardo; Silva, Bruno; Silva, Catarina; Loureiro, Pedro; Queiroz, Ana; Fraga, Sofia; Esteves, Jorge; Mendes, Diana; Fleming, Rita; Vieira, Luís; Gonçalves, João; Faustino, Paula | article | |
| Abr-2016 | Next-generation sequencing of iron-metabolism related genes in Portuguese patients with iron overload: novel pathogenic genetic variants | Faria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luis; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Rivera, Isabel; Fraga, Sofia; Fleming, Rita; Faustino, Paula | conferenceObject | |
| 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 | conferenceObject | |
| Nov-2016 | Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia | Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha-Reis, Ana; Valtonen-Andrá, C.; Sonesson, A.; Pina, Francisca; Forjaz-Lacera, João; Maia, Raquel; Kjollerstrom, Paula; Lavinha, João; Gonçalves, João; Faustino, Paula | conferenceObject | |
| Abr-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 | conferenceObject | |
| 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 | |
