Browsing by Author Bourbon, Mafalda

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Issue DateTitleAuthor(s)TypeAccess Type
May-2016Genetic Analysis of Familial Hypercholesterolemia in Iberoamerican CountriesChora, J.R.; Mata, P.; Santos, R.; Vázquez-Cárdenas, A.; Stoll, M.; Schreier, L.; Cuevas, A.; Alves, A.C.; Medeiros, A.M.; Perez Isla, L.; Jannes, C.; Pereira, A.; Dell'Oca, N.; Reyes, X.; Corral, P.; Bañares, V.; Magaña-Torres, T.; Aguilar-Salinas, C.; Alonso, R.; Bourbon, MafaldaconferenceObjectembargoedAccess
2015Genetic basis of Familial Hypercholesterolemia in PortugalBourbon, MafaldalectureembargoedAccess
6-Nov-2015Genetic causes of severe dyslipidaemiaBourbon, MafaldaconferenceObjectembargoedAccess
Mar-2015Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional DataAlves, A.C.; Benito-Vicente, A.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
May-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Oct-2013Genetic variation at the CY2C19 gene associated with Metabolic Syndrome susceptibility in a South Portuguese populationGaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias; Barreto da Silva, MartaconferenceObjectopenAccess
Feb-2014Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in PortugalGaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Matias Dias, Carlos; Barreto da Silva, MartaarticleopenAccess
Jan-2011Genetics of familiar hypercholesterolemia and hypertriglyceridemiaBourbon, MafaldaconferenceObjectrestrictedAccess
Aug-2013Genética das hipercolesterolemias dominantesBourbon, MafaldaconferenceObjectrestrictedAccess
Feb-2016Genética, Saúde e DoençaMoura Vicente, Astrid; Miranda, Natércia; Bourbon, MafaldaotheropenAccess
May-2014Genotype/phenotype differences in childhood and adulthoodAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
Oct-2014Good correlation between plasma cytokeratin-18 and controlled attenuation parameter (CAP) in healthy populationCarvalhana, Sofia; Leitão, Jorge; Alves, Catarina; Bourbon, Mafalda; Cortez-Pinto, HelenaconferenceObjectrestrictedAccess
Sep-2012Guia rápido para compras saudáveisCâmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, IsabelotheropenAccess
Oct-2014HCV and HBV prevalence in the population: Large disparity between Hepatitis C in the general population, comparing with high risk groupsCarvalhana, Sofia; Pinto, Rui; Leitão, Jorge; Silva, Ana Paula; Alves, Catarina; Bourbon, Mafalda; Carvalho, Armando; Cortez-Pinto, HelenaconferenceObjectrestrictedAccess
Oct-2014Hepatitis B serologic markers after 14 years of universal new-born vaccinationCarvalhana, Sofia; Pinto, Rui; Leitão, Jorge; Silva, Ana Paula; Alves, Catarina; Bourbon, Mafalda; Carvalho, Armando; Cortez-Pinto, HelenaconferenceObjectrestrictedAccess
Oct-2011Hipercolesterolemia Familiar em PortugalBourbon, MafaldaconferenceObjectrestrictedAccess
Oct-2012Hipercolesterolémia Familiar: Em Cada Amostra Sanguínea Uma Oportunidade DiagnósticaMartins, Luisa; Lourenco, Rita; Fraga, Ana Beatriz; Goncalves, Juan; Anselmo, Joao; Medeiros, Ana; Bourbon, Mafalda; Cesar, Rui; Pereira Duarte, CarlosconferenceObjectopenAccess
Feb-2016História de Saúde FamiliarMoura Vicente, Astrid; Miranda, Natércia; Bourbon, MafaldaotheropenAccess
16-Jan-2015Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemiaRossi, Niccolò; Bourbon, MafaldaconferenceObjectembargoedAccess
May-2014In silico classification of LDLR variants leads to misdiagnosis of FH patients – validation of a novel criteriaAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess