ProfileOfResearchers

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

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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

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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

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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

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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

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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

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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

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