Percorrer por autor Medeiros, A.M.

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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
Mai-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
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
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
Mar-2015Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Nov-2014Mutational analysis of the Portuguese cohort with clinical diagnosis of FHMedeiros, A.M.; Alves, A.C; Bourbon, M.conferenceObjectembargoedAccess
Out-2013Mutational analysis of the Portuguese cohort with clinical diagnosis of FHMedeiros, A.M.; Alves, A.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
Nov-2012Portuguese Familial Hypercholesterolemia Study: 13 years of resultsMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Mar-2017Preliminary spectrum of genetic variants in familial hypercholesterolemia in ArgentinaBañares, V.G.; Corral, P.; Medeiros, A.M.; Araujo, M.B.; Lozada, A.; Bustamante, J.; Cerretini, R.; López, G.; Bourbon, M.; Schreier, L.E.articleembargoedAccess
Abr-2017Systematic review of LDLR mutations associated to Familial hypercholesterolaemia evidence of functional studies and application of ACMG guidelines for FH diagnosisChora, J.R.; Alves, A.C.; Medeiros, A.M.; Bourbon, M.conferenceObjectembargoedAccess
Out-2017The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causesMariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, MafaldaconferenceObjectembargoedAccess