Percorrer por autor Faustino, Paula

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DataTítuloAutor(es)TipoAcesso
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
27-Dez-2016HFE variants and the expression of iron-related proteins in breast cancer-associated lymphocytes and macrophagesMarques, Oriana; Rosa, Ana; Leite, Luciana; Faustino, Paula; Rêma, Alexandra; Martins da silva, Berta; Porto, Graça; Lopes, CarlosarticleopenAccess
8-Out-2012Investigação em doenças mendelianas: o exemplo das hemoglobinopatias e hemocromatose hereditáriaFaustino, PaulalectureopenAccess
19-Abr-2017Iron 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 anemiaPinto, Joana; Nobre de Jesus, Gustavo; Palma Anselmo, Mónica; Gonçalves, Lúcia; Brás, Daniela; Madeira Lopes, João; Meneses, João; Victorino, Rui; Faustino, PaulaarticleopenAccess
Abr-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
Ago-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
Out-2016Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese populationFaria, Ricardo; Silva, Bruno; Silva, Catarina; Loureiro, Pedro; Queiroz, Ana; Fraga, Sofia; Esteves, Jorge; Mendes, Diana; Fleming, Rita; Vieira, Luís; Gonçalves, João; Faustino, PaulaarticleopenAccess
Abr-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
Nov-2016Novel deletions and unusual genetic mechanisms underlying alpha-thalassemiaFerrão, 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, PaulaconferenceObjectopenAccess
Abr-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-Abr-2014O papel da Genética Humana na Saúde Pública – o exemplo das Hemoglobinopatias e da Hemocromatose HereditáriaFaustino, PaulalecturerestrictedAccess
8-Fev-2017Patologias associadas à desregulação do metabolismo do ferro (do excesso ao défice) e hemoglobinopatiasFaustino, PaulalecturerestrictedAccess
2016Sickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parametersAguiar, Laura; Matos, Andreia; Gil, Ângela; Afonso, Conceição; Braga, Lígia; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula; Bicho, Manuel; Inácio, ÂngelaarticleembargoedAccess
Jun-2016Sickle cell anemia - nitric oxide related genetic modifiers of hematological and biochemical parametersAguiar, Laura; Matos, Andreia; Gil, Ângela; Afonso, Conceição; Braga, Lígia; Lavinha, João; Kjollerstrom, Paula; Faustino, Paula; Bicho, Manuel; Inácio, ÂngelaconferenceObjectopenAccess
26-Out-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
Abr-2017Síndrome hereditária hiperferritinemia-cataratas: conhecer para diagnosticarMartins, Rosa; Martins, Rita; Queiroz, Ana Margarida; Faustino, Paula; G. Ferreira, MariaarticleopenAccess