Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
91
TITLE: Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity Full Text
AUTHORS: Fernández-Higuero, JA; Etxebarria, A; Benito-Vicente, A; Alves, AC; Arrondo, JLR; Ostolaza, H; Bourbon, M; Martin, C;
PUBLISHED: 2015, SOURCE: Sci. Rep. - Scientific Reports, VOLUME: 5
AUTHORS: Fernández-Higuero, JA; Etxebarria, A; Benito-Vicente, A; Alves, AC; Arrondo, JLR; Ostolaza, H; Bourbon, M; Martin, C;
PUBLISHED: 2015, SOURCE: Sci. Rep. - Scientific Reports, VOLUME: 5
92
TITLE: «Papa Bem»: investir na literacia em saúde para a prevenção da obesidade infantil. «Papa Bem»: Investing in health literacy for childhood obesity prevention
AUTHORS: Ana R Goes; Gisele Câmara; Isabel Loureiro; Graciete Bragança; Luís S Nunes; Mafalda Bourbon;
PUBLISHED: 2015, SOURCE: Revista Portuguesa de Saúde Pública, VOLUME: 33, ISSUE: 1
AUTHORS: Ana R Goes; Gisele Câmara; Isabel Loureiro; Graciete Bragança; Luís S Nunes; Mafalda Bourbon;
PUBLISHED: 2015, SOURCE: Revista Portuguesa de Saúde Pública, VOLUME: 33, ISSUE: 1
INDEXED IN: 
Handle
Handle93
TITLE: Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal
AUTHORS: Gaio, V; Nunes, B; Nunes, B; Fernandes, A; Mendonca, F; Correia, FH; Beleza, A; Gil, AP; Bourbon, M; Vicente, A; Dias, CM; da Silva, MB;
PUBLISHED: 2014, SOURCE: DIABETOLOGY & METABOLIC SYNDROME, VOLUME: 6, ISSUE: 1
AUTHORS: Gaio, V; Nunes, B; Nunes, B; Fernandes, A; Mendonca, F; Correia, FH; Beleza, A; Gil, AP; Bourbon, M; Vicente, A; Dias, CM; da Silva, MB;
PUBLISHED: 2014, SOURCE: DIABETOLOGY & METABOLIC SYNDROME, VOLUME: 6, ISSUE: 1
94
TITLE: Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
AUTHORS: Alves, AC; Etxebarria, A; Soutar, AK; Martin, C; Bourbon, M;
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 7
AUTHORS: Alves, AC; Etxebarria, A; Soutar, AK; Martin, C; Bourbon, M;
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 7
INDEXED IN: 
Scopus 
WOS Handle
Scopus WOS Handle IN MY: 
ORCID
ORCID95
TITLE: Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia
AUTHORS: Ana Margarida Medeiros; Ana Catarina Alves; Pedro Aguiar; Mafalda Bourbon;
PUBLISHED: 2014, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 55, ISSUE: 5
AUTHORS: Ana Margarida Medeiros; Ana Catarina Alves; Pedro Aguiar; Mafalda Bourbon;
PUBLISHED: 2014, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 55, ISSUE: 5
96
TITLE: How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasound Full Text
AUTHORS: Carvalhana, S; Leitao, J; Alves, AC; Bourbon, M; Cortez Pinto, H;
PUBLISHED: 2014, SOURCE: LIVER INTERNATIONAL, VOLUME: 34, ISSUE: 6
AUTHORS: Carvalhana, S; Leitao, J; Alves, AC; Bourbon, M; Cortez Pinto, H;
PUBLISHED: 2014, SOURCE: LIVER INTERNATIONAL, VOLUME: 34, ISSUE: 6
97
TITLE: Trypanosoma brucei histone H1 inhibits RNA polymerase I transcription and is important for parasite fitness in vivo. Histone H1 inhibits Pol I transcription and is important for parasite fitness in vivo Full Text
AUTHORS: Ana C Pena; Mafalda R Pimentel; Helena Manso; Rita Vaz Drago; Daniel Pinto Neves; Francisco Aresta Branco; Filipa Rijo Ferreira; Fabien Guegan; Luis Pedro Coelho; Maria Carmo Fonseca; Nuno L Barbosa Morais; Luisa M Figueiredo;
PUBLISHED: 2014, SOURCE: MOLECULAR MICROBIOLOGY, VOLUME: 93, ISSUE: 4
AUTHORS: Ana C Pena; Mafalda R Pimentel; Helena Manso; Rita Vaz Drago; Daniel Pinto Neves; Francisco Aresta Branco; Filipa Rijo Ferreira; Fabien Guegan; Luis Pedro Coelho; Maria Carmo Fonseca; Nuno L Barbosa Morais; Luisa M Figueiredo;
PUBLISHED: 2014, SOURCE: MOLECULAR MICROBIOLOGY, VOLUME: 93, ISSUE: 4
98
TITLE: Cardiovascular risk profile of high school students: A cross-sectional study. Perfil de risco cardiovascular de adolescentes escolarizados : um estudo transversal
AUTHORS: Rocha, T; Rocha, E; Alves, AC; Medeiros, AM; Francisco, V; Silva, S; Gaspar, IM; Rato, Q; Bourbon, M;
PUBLISHED: 2014, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 33, ISSUE: 9
AUTHORS: Rocha, T; Rocha, E; Alves, AC; Medeiros, AM; Francisco, V; Silva, S; Gaspar, IM; Rato, Q; Bourbon, M;
PUBLISHED: 2014, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 33, ISSUE: 9
99
TITLE: Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment Full Text
AUTHORS: Aitor Etxebarria; Asier Benito Vicente; Ana C Alves; Helena Ostolaza; Mafalda Bourbon; Cesar Martin;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 11
AUTHORS: Aitor Etxebarria; Asier Benito Vicente; Ana C Alves; Helena Ostolaza; Mafalda Bourbon; Cesar Martin;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 11
100
TITLE: Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
AUTHORS: Cymbron, T; Mendes, P; Ramos, A; Raposo, M; Kazachkova, N; Medeiros, AM; Bruges Armas, J; Bourbon, M; Lima, M;
PUBLISHED: 2014, SOURCE: Meta Gene, VOLUME: 2
