Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
61
TITLE: Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia
AUTHORS: Futema, M; Bourbon, M; Williams, M; Humphries, SE;
PUBLISHED: 2018, SOURCE: ATHEROSCLEROSIS, VOLUME: 277
AUTHORS: Futema, M; Bourbon, M; Williams, M; Humphries, SE;
PUBLISHED: 2018, SOURCE: ATHEROSCLEROSIS, VOLUME: 277
62
TITLE: ClinVar database of global familial hypercholesterolemia-associated DNA variants
AUTHORS: Iacocca, MA; Chora, JR; Carrie, A; Freiberger, T; Leigh, SE; Defesche, JC; Kurtz, CL; DiStefano, MT; Santos, RD; Humphries, SE; Mata, P; Jannes, CE; Hooper, AJ; Wilemon, KA; Benlian, P; O'Connor, R; Garcia, J; Wand, H; Tichy, L; Sijbrands, EJ; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
AUTHORS: Iacocca, MA; Chora, JR; Carrie, A; Freiberger, T; Leigh, SE; Defesche, JC; Kurtz, CL; DiStefano, MT; Santos, RD; Humphries, SE; Mata, P; Jannes, CE; Hooper, AJ; Wilemon, KA; Benlian, P; O'Connor, R; Garcia, J; Wand, H; Tichy, L; Sijbrands, EJ; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
63
TITLE: No evidence for lower levels of serum vitamin d in the presence of hepatic steatosis. A study on the portuguese general population
AUTHORS: Leitão, J; Carvalhana, S; Silva, AP; Velasco, F; Medeiros, I; Alves, AC; Bourbon, M; Oliveiros, B; Carvalho, A; Cortez Pinto, H;
PUBLISHED: 2018, SOURCE: International Journal of Medical Sciences, VOLUME: 15, ISSUE: 14
AUTHORS: Leitão, J; Carvalhana, S; Silva, AP; Velasco, F; Medeiros, I; Alves, AC; Bourbon, M; Oliveiros, B; Carvalho, A; Cortez Pinto, H;
PUBLISHED: 2018, SOURCE: International Journal of Medical Sciences, VOLUME: 15, ISSUE: 14
64
TITLE: Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: Application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
AUTHORS: Joana Rita Chora; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Genetics in Medicine, VOLUME: 20, ISSUE: 6
AUTHORS: Joana Rita Chora; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Genetics in Medicine, VOLUME: 20, ISSUE: 6
65
TITLE: Improving Familial Hypercholesterolaemia Diagnosis – Functional in Vitro Analysis of LDLR Missense Variants Found in the Portuguese FH Cohort
AUTHORS: Ana C Alves; Rafael Graça; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Atherosclerosis Supplements, VOLUME: 32
AUTHORS: Ana C Alves; Rafael Graça; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Atherosclerosis Supplements, VOLUME: 32
66
TITLE: In vitro cytotoxicity evaluation of resveratrol-loaded nanoparticles: Focus on the challenges of in vitro methodologies Full Text
AUTHORS: Rocha, V; Marques, C; Figueiredo, JL; Rita Gaio ; Costa, PC ; Sousa Lobo, JMS ; Almeida, IF ;
PUBLISHED: 2017, SOURCE: FOOD AND CHEMICAL TOXICOLOGY, VOLUME: 103
AUTHORS: Rocha, V; Marques, C; Figueiredo, JL; Rita Gaio ; Costa, PC ; Sousa Lobo, JMS ; Almeida, IF ;
PUBLISHED: 2017, SOURCE: FOOD AND CHEMICAL TOXICOLOGY, VOLUME: 103
67
TITLE: In Vitro Differentiation of Mature Myofibers for Live Imaging
AUTHORS: Mafalda R Pimentel; Sestina Falcone; Bruno Cadot; Edgar R Gomes;
PUBLISHED: 2017, SOURCE: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, ISSUE: 119
AUTHORS: Mafalda R Pimentel; Sestina Falcone; Bruno Cadot; Edgar R Gomes;
PUBLISHED: 2017, SOURCE: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, ISSUE: 119
INDEXED IN: 
WOS
WOS68
TITLE: Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia
AUTHORS: Bourbon, M; Alves, AC; Sijbrands, EJ;
PUBLISHED: 2017, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 28, ISSUE: 2
AUTHORS: Bourbon, M; Alves, AC; Sijbrands, EJ;
PUBLISHED: 2017, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 28, ISSUE: 2
69
TITLE: Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
AUTHORS: Santos, RD; Bourbon, M; Alonso, R; Cuevas, A; Vasques Cardenas, NA; Pereira, AC; Villamizar, AM; Alves, AC; Medeiros, AM; Jannes, CE; Krieger, JE; Schreier, L; de Isla, LP; Magana Torres, MT; Stoll, M; Mata, N; Oca, ND; Corral, P; Asenjo, S; Banares, VG; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF CLINICAL LIPIDOLOGY, VOLUME: 11, ISSUE: 1
AUTHORS: Santos, RD; Bourbon, M; Alonso, R; Cuevas, A; Vasques Cardenas, NA; Pereira, AC; Villamizar, AM; Alves, AC; Medeiros, AM; Jannes, CE; Krieger, JE; Schreier, L; de Isla, LP; Magana Torres, MT; Stoll, M; Mata, N; Oca, ND; Corral, P; Asenjo, S; Banares, VG; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF CLINICAL LIPIDOLOGY, VOLUME: 11, ISSUE: 1
70
TITLE: Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry
AUTHORS: Bourbon, M; Alves, AC; Alonso, R; Mata, N; Aguiar, P; Padró, T; Mata, P;
PUBLISHED: 2017, SOURCE: ATHEROSCLEROSIS, VOLUME: 262
AUTHORS: Bourbon, M; Alves, AC; Alonso, R; Mata, N; Aguiar, P; Padró, T; Mata, P;
PUBLISHED: 2017, SOURCE: ATHEROSCLEROSIS, VOLUME: 262
