Percorrer por assunto Familial Hypercholesterolemia

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Mai-2014Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignmentBenito-Vicente, A.; Etxebarria, A.; Alves, A.C.; Bourbon, M.; Martin, C.conferenceObjectembargoedAccess
11-Nov-2014Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation AssignmentEtxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
Mar-2014Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemiaMedeiros, A.M.; Alves, A.C.; Aguiar, P; Bourbon, M.; on behalf of the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia StudyarticleembargoedAccess
10-Nov-2015Characterization of the First PCSK9 Gain of Function HomozygoteAlves, Ana Catarina; Etxebarria, Aitor; Medeiros, Ana Margarida; Benito-Vicente, Asier; Thedrez, Aurélie; Passard, Maxime; Croyal, Mikaël; Martin, Cesar; Lambert, Gilles; Bourbon, MafaldaarticleembargoedAccess
Jan-2017Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countriesSantos, R.D.; Bourbon, M.; Alonso, R.; Cuevas, A.; Vasques-Cardenas, N.A.; Pereira, A.C.; Merchan, A.; Alves, A.C.; Medeiros, A.M.; Jannes, C.E.; Krieger, J.E.; Schreier, L.; Perez de Isla, L.; Magaña-Torres, M.T.; Stoll, M.; Mata, N.; Dell Oca, N.; Corral, P.; Asenjo, S.; Bañares, V.G.; Reyes, X.; Mata, P.; Ibero-American Familial Hypercholesterolemia NetworkarticleembargoedAccess
Mar-2017Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutationsPadeira, G.; Gomes, I.; Correia, C.; Valongo, C.; Alves, A.C.; Medeiros, A.; Bourbon, M.; Ferreira, A.C.conferenceObjectopenAccess
Mai-2016Construction of a New Familial Hypercholesterolemia Variant Data Base. A Systematic Review for a 2015 UpdateAzevedo, S.; Chora, J.R; Alves, A.C; Medeiros, A.M.; Bourbon, MafaldaconferenceObjectembargoedAccess
Nov-2016Dislipidemias da biologia molecular a clínicaBourbon, MafaldalecturerestrictedAccess
16-Jan-2015Exome Sequencing in Familial HypercholesterolemiaAlves, Ana CatarinalectureembargoedAccess
10-Dez-2014Familial Hypercholesterolemia in PortugalBourbon, M.lectureembargoedAccess
2015Familial Hypercholesterolemia in PortugalBourbon, MafaldalectureembargoedAccess
Out-2015Familial Hypercholesterolemia in PortugalBourbon, MafaldaconferenceObjectembargoedAccess
Mai-2014Familial Hypercholesterolemia molecular characteristics in IberoamericanBourbon, M.conferenceObjectembargoedAccess
Out-2017Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, VenezuelaLima-Martínez, M.M.; Paoli, M.; Vázquez-Cárdenas, A.; Magaña-Torres, M.T.; Guevara, O.; Muñoz, M.C.; Parrilla-Alvarez, A.; Márquez, Y.; Medeiros, A.; Bourbon, M.articleembargedAccess
Mai-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
7-Fev-2014Genetic Basis of Familial Hypercholesterolemia in PortugalBourbon, M.lecturerestrictedAccess
2015Genetic basis of Familial Hypercholesterolemia in PortugalBourbon, MafaldalectureembargoedAccess
Jun-2016Genetic diagnosis of Familial HypercholesterolemiaBourbon, Mafalda; Chora, Joana; Alves, CatarinalectureembargoedAccess
Mai-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
16-Jan-2015Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemiaRossi, Niccolò; Bourbon, MafaldaconferenceObjectembargoedAccess