Percorrer por autor Alves, A.C.

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8-Dez-2015Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicityFernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
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
Jun-2012The impact of cascade screening in familial hypercholesterolemia diagnosisGomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
Mai-2012To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteriaAlves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.conferenceObjectembargoedAccess
Out-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess
Mai-2016Using percentiles to diagnose familial hypercholesterolemia in PortugalPereira, A.; Alves, A.C.; Medeiros, A.M.; Mariano, Cibelle; Bourbon, MafaldaconferenceObjectembargoedAccess
Jun-2012Whole-exome sequencing in patients with clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Mai-2016Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaconferenceObjectembargoedAccess