Browsing by Subject Familial Hypercholesterolemia

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Issue DateTitleAuthor(s)TypeAccess Type
May-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
May-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
16-Jan-2015Exome Sequencing in Familial HypercholesterolemiaAlves, Ana CatarinalectureembargoedAccess
10-Dec-2014Familial Hypercholesterolemia in PortugalBourbon, M.lectureembargoedAccess
2015Familial Hypercholesterolemia in PortugalBourbon, MafaldalectureembargoedAccess
Oct-2015Familial Hypercholesterolemia in PortugalBourbon, MafaldaconferenceObjectembargoedAccess
May-2014Familial Hypercholesterolemia molecular characteristics in IberoamericanBourbon, M.conferenceObjectembargoedAccess
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
7-Feb-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
May-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
May-2016Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative PatientsMedeiros, A.M.; Aguiar, P.; Bourbon, MafaldaconferenceObjectembargoedAccess
16-Oct-2015Molecular diagnosis of Familial Hypercholesterolemia and functional studies of missense variants in the LDLR geneValentim de Azevedo, SílvialectureembargoedAccess
Jun-2010Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratificationAlves, A.C.; Medeiros, A.M.; Francisco, V.; Gaspar, I.M.; Rato, Q.; Bourbon, M.articleopenAccess
28-May-2015Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvementMedeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaarticleembargoedAccess