Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
81
TITLE: Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
AUTHORS: Vallejo Vaz, AJ; Akram, A; Seshasai, SRK; Cole, ; Watts, GF; Hovingh, GK; Kastelein, JJP; Mata, P; Raal, FJ; Santos, RD; Soran, H; Freiberger, T; Abifadel, M; Aguilar Salinas, CA; Alnouri, F; Alonso, R; Al Rasadi, K; Banach, M; Bogsrud, MP; Bourbon, M; ...More
PUBLISHED: 2016, SOURCE: ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 22
AUTHORS: Vallejo Vaz, AJ; Akram, A; Seshasai, SRK; Cole, ; Watts, GF; Hovingh, GK; Kastelein, JJP; Mata, P; Raal, FJ; Santos, RD; Soran, H; Freiberger, T; Abifadel, M; Aguilar Salinas, CA; Alnouri, F; Alonso, R; Al Rasadi, K; Banach, M; Bogsrud, MP; Bourbon, M; ...More
PUBLISHED: 2016, SOURCE: ATHEROSCLEROSIS SUPPLEMENTS, VOLUME: 22
82
TITLE: Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups
AUTHORS: Carvalhana, SC; Leitao, J; Alves, AC; Bourbon, M; Cortez Pinto, H;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 28, ISSUE: 6
AUTHORS: Carvalhana, SC; Leitao, J; Alves, AC; Bourbon, M; Cortez Pinto, H;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 28, ISSUE: 6
83
TITLE: Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal
AUTHORS: Gaio, V; Picanco, I; Nunes, B; Fernandes, A; Mendonca, F; Correia, FH; Beleza, A; Gil, AP; Bourbon, M; Vicente, A; Dias, CM; da Silva, MB;
PUBLISHED: 2015, SOURCE: PUBLIC HEALTH GENOMICS, VOLUME: 18, ISSUE: 3
AUTHORS: Gaio, V; Picanco, I; Nunes, B; Fernandes, A; Mendonca, F; Correia, FH; Beleza, A; Gil, AP; Bourbon, M; Vicente, A; Dias, CM; da Silva, MB;
PUBLISHED: 2015, SOURCE: PUBLIC HEALTH GENOMICS, VOLUME: 18, ISSUE: 3
84
TITLE: «Papa Bem»: Investing in health literacy for childhood obesity prevention [«Papa Bem»: investir na literacia em saúde para a prevenção da obesidade infantil]
AUTHORS: Goes, AR; Camara, G; Loureiro, I; Braganca, G; Saboga Nunes, L; Bourbon, M;
PUBLISHED: 2015, SOURCE: Revista Portuguesa de Saude Publica, VOLUME: 33, ISSUE: 1
AUTHORS: Goes, AR; Camara, G; Loureiro, I; Braganca, G; Saboga Nunes, L; Bourbon, M;
PUBLISHED: 2015, SOURCE: Revista Portuguesa de Saude Publica, VOLUME: 33, ISSUE: 1
85
TITLE: Familial hypercholesterolaemia: A global call to arms Full Text
AUTHORS: Antonio J Vallejo Vaz; Sreenivasa Rao Kondapally Seshasai; Della Cole, ; Kees K Hovingh; John J P Kastelein; Pedro Mata; Frederick J Raal; Raul D Santos; Handrean Soran; Gerald F Watts; Marianne Abifadel; Carlos A Aguilar Salinas; Asif Akram; Fahad Alnouri; Rodrigo Alonso; Khalid Al Rasadi; Maciej Banach; Martin P Bogsrud; Mafalda Bourbon; Eric Bruckert; ...More
PUBLISHED: 2015, SOURCE: ATHEROSCLEROSIS, VOLUME: 243, ISSUE: 1
AUTHORS: Antonio J Vallejo Vaz; Sreenivasa Rao Kondapally Seshasai; Della Cole, ; Kees K Hovingh; John J P Kastelein; Pedro Mata; Frederick J Raal; Raul D Santos; Handrean Soran; Gerald F Watts; Marianne Abifadel; Carlos A Aguilar Salinas; Asif Akram; Fahad Alnouri; Rodrigo Alonso; Khalid Al Rasadi; Maciej Banach; Martin P Bogsrud; Mafalda Bourbon; Eric Bruckert; ...More
PUBLISHED: 2015, SOURCE: ATHEROSCLEROSIS, VOLUME: 243, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
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ORCID
ORCID86
TITLE: Characterization of the First PCSK9 Gain of Function Homozygote
AUTHORS: Alves, AC; Etxebarria, A; Medeiros, AM; Benito Vicente, A; Thedrez, A; Passard, M; Croyal, M; Martin, C; Lambert, G; Bourbon, M;
PUBLISHED: 2015, SOURCE: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, VOLUME: 66, ISSUE: 19
AUTHORS: Alves, AC; Etxebarria, A; Medeiros, AM; Benito Vicente, A; Thedrez, A; Passard, M; Croyal, M; Martin, C; Lambert, G; Bourbon, M;
PUBLISHED: 2015, SOURCE: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, VOLUME: 66, ISSUE: 19
87
TITLE: Familial hypercholesterolaemia: A global call to arms Full Text
AUTHORS: Antonio J Vallejo-Vaz; Sreenivasa Rao Kondapally Seshasai; Della Cole; Kees K Hovingh; John J.P Kastelein; Pedro Mata; Frederick J Raal; Raul D Santos; Handrean Soran; Gerald F Watts; Marianne Abifadel; Carlos A Aguilar-Salinas; Asif Akram; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Maciej Banach; Martin P Bogsrud; Mafalda Bourbon; Eric Bruckert; ...More
PUBLISHED: 2015, SOURCE: Atherosclerosis, VOLUME: 243, ISSUE: 1
AUTHORS: Antonio J Vallejo-Vaz; Sreenivasa Rao Kondapally Seshasai; Della Cole; Kees K Hovingh; John J.P Kastelein; Pedro Mata; Frederick J Raal; Raul D Santos; Handrean Soran; Gerald F Watts; Marianne Abifadel; Carlos A Aguilar-Salinas; Asif Akram; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Maciej Banach; Martin P Bogsrud; Mafalda Bourbon; Eric Bruckert; ...More
PUBLISHED: 2015, SOURCE: Atherosclerosis, VOLUME: 243, ISSUE: 1
88
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: Fernandez Higuero, JA; Etxebarria, A; Benito Vicente, A; Alves, AC; Arrondo, JLR; Ostolaza, H; Bourbon, M; Martin, C;
PUBLISHED: 2015, SOURCE: SCIENTIFIC REPORTS, VOLUME: 5
AUTHORS: Fernandez Higuero, JA; Etxebarria, A; Benito Vicente, A; Alves, AC; Arrondo, JLR; Ostolaza, H; Bourbon, M; Martin, C;
PUBLISHED: 2015, SOURCE: SCIENTIFIC REPORTS, VOLUME: 5
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID89
TITLE: The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
AUTHORS: Benito Vicente, A; Alves, AC; Etxebarria, A; Medeiros, AM; Martin, C; Bourbon, M;
PUBLISHED: 2015, SOURCE: GENETICS IN MEDICINE, VOLUME: 17, ISSUE: 12
AUTHORS: Benito Vicente, A; Alves, AC; Etxebarria, A; Medeiros, AM; Martin, C; Bourbon, M;
PUBLISHED: 2015, SOURCE: GENETICS IN MEDICINE, VOLUME: 17, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID90
TITLE: Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
AUTHORS: Hopkins, PN; Defesche, J; Fouchier, SW; Bruckert, E; Luc, G; Cariou, B; Sjouke, B; Leren, TP; Harada Shiba, M; Mabuchi, H; Rabes, JP; Carrie, A; van Heyningen, C; Carreau, V; Farnier, M; Teoh, YP; Bourbon, M; Kawashiri, M; Nohara, A; Soran, H; ...More
PUBLISHED: 2015, SOURCE: CIRCULATION-CARDIOVASCULAR GENETICS, VOLUME: 8, ISSUE: 6
AUTHORS: Hopkins, PN; Defesche, J; Fouchier, SW; Bruckert, E; Luc, G; Cariou, B; Sjouke, B; Leren, TP; Harada Shiba, M; Mabuchi, H; Rabes, JP; Carrie, A; van Heyningen, C; Carreau, V; Farnier, M; Teoh, YP; Bourbon, M; Kawashiri, M; Nohara, A; Soran, H; ...More
PUBLISHED: 2015, SOURCE: CIRCULATION-CARDIOVASCULAR GENETICS, VOLUME: 8, ISSUE: 6
