1
TITLE: Hypercholesterolemia: A disease with expression from childhood
AUTHORS: Maria Ceu Espinheira; Carla Vasconcelos; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon ; Antonio Guerra ;
PUBLISHED: 2013, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 32, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID
2
TITLE: Sortilin and the risk of cardiovascular disease
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon ; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 32, ISSUE: 10
INDEXED IN: Scopus WOS
IN MY: ORCID
3
TITLE: In vitro functional characterization of missense mutations in the LDLR gene  Full Text
AUTHORS: Silva, S; Alves, AC; Patel, D; Malho, R ; Soutar, AK; Bourbon, M ;
PUBLISHED: 2012, SOURCE: ATHEROSCLEROSIS, VOLUME: 225, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification
AUTHORS: Alves, AC; Medeiros, AM; Francisco, V; Gaspar, IM; Rato, Q; Bourbon, M ;
PUBLISHED: 2010, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 29, ISSUE: 6
INDEXED IN: Scopus WOS
IN MY: ORCID
5
TITLE: Update of the Portuguese Familial Hypercholesterolaemia Study  Full Text
AUTHORS: Medeiros, AM; Alves, AC; Francisco, V; Bourbon, M ;
PUBLISHED: 2010, SOURCE: ATHEROSCLEROSIS, VOLUME: 212, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
AUTHORS: Bourbon, M ; Duarte, MA; Alves, AC; Medeiros, AM; Marques, L; Soutar, AK;
PUBLISHED: 2009, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 46, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Familial hypercholesterolaemia in Portugal  Full Text
AUTHORS: Bourbon, M ; Alves, AC; Medeiros, AM; Silva, S; Soutar, AK;
PUBLISHED: 2008, SOURCE: ATHEROSCLEROSIS, VOLUME: 196, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: Genetic factors and cardiovascular disease [110] [Factores genéticos e a doença cardiovascular [110]]
AUTHORS: Bourbon, M ;
PUBLISHED: 2008, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 27, ISSUE: 12
INDEXED IN: Scopus
IN MY: ORCID
9
TITLE: Portuguese study of FAmilial dilaTed cardIoMyopAthy: The FATIMA study [Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA]
AUTHORS: Martins, E ; Silva Cardoso, J ; Bicho, M ; Bourbon, M ; Ceia, F; Rebocho, MJ; Moura, B ; Fonseca, C; Correia, MJ; Brito, D ; Perdigao, C; Madeira, H ; Abreu Lima, C;
PUBLISHED: 2008, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 27, ISSUE: 9
INDEXED IN: Scopus
IN MY: ORCID
10
TITLE: Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations  Full Text
AUTHORS: Di Leo, E; Magnolo, L; Bertolotti, M; Bourbon, M ; Carmo C Pereira; Pirisi, M; Calandra, S; Tarugi, P;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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