Percorrer por autor Alves, A.C.

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Jun-2015LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaAzevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.conferenceObjectembargoedAccess
8-Mai-2017LDLR, APOB and PCSK9 variants associated with Familial hypercholesterolaemia application of ACMG guidelines for variant interpretationChora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Jul-2011Lifestyle Habits and Cardiovascular Risk Factors in a Young PopulationMedeiros, A.M.; Rocha, T.M.; Francisco, V.; Alves, A.C.; Santos, T.; Louro, M.H.; Gonçalves, C.; Bourbon, M.conferenceObjectopenAccess
Abr-2017Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemiaBourbon, M.; Alves, A.C.; Sijbrands, E.J.articleopenAccess
Mar-2017Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Cortez-Pinto, H.; Bourbon, M.articleopenAccess
Out-2012O método de cascade screening na identificação de doentes com hipercolesterolemia familiarMedeiros, A.; Leitão, F.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
Jun-2011Milder phenotype of relatives of index patients can misdiagnose Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
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
Jul-2017Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registryBourbon, M.; Alves, A.C.; Alonso, R.; Mata, N.; Aguiar, P.; Padró, T.; Mata, P.articleembargoedAccess
Mar-2015Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Out-2013Mutational analysis of the Portuguese cohort with clinical diagnosis of FHMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectrestrictedAccess
Nov-2011Next-generation sequencing of LDLR and APOB genes in patients with a clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Abr-2013Novas mutações funcionais no gene APOB causam hipercolesterolemia FamiliarAlves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
Out-2013Novel Functional APOB Mutations outside LDL-Binding Region Causing FamilialAlves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectrestrictedAccess
Mar-2015Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in IberoamericaAzevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Abr-2013Pathogenicity assessment of LDLR variant: a contribution for the correct management of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.conferenceObjectopenAccess
Jun-2013Pathogenicity assessment of LDLR variants in patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
Mai-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess
Abr-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess
Out-2011Portuguese Familial Hypercholesterolemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.conferenceObjectopenAccess