Ana Margarida Cabeleira Medeiros
AuthID: R-000-PQP
1
TITLE: Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone? Full Text
AUTHORS: Medeiros, A. M.; Bourbon, M.;
PUBLISHED: 2023, SOURCE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, ISSUE: 4
AUTHORS: Medeiros, A. M.; Bourbon, M.;
PUBLISHED: 2023, SOURCE: CURRENT ATHEROSCLEROSIS REPORTS, VOLUME: 25, ISSUE: 4
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: LDL-C GENETIC RISK SCORES IN FAMILIAL HYPERCHOLESTEROLEMIA PHENOTYPE Full Text
AUTHORS: Medeiros, Ana M.; Alves, Ana C.; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Medeiros, Ana M.; Alves, Ana C.; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults Full Text
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2023, SOURCE: ATHEROSCLEROSIS, VOLUME: 383
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2023, SOURCE: ATHEROSCLEROSIS, VOLUME: 383
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects Full Text
AUTHORS: Albuquerque, J; Medeiros, AM; Alves, AC; Bourbon, M; Antunes, M;
PUBLISHED: 2022, SOURCE: SCIENTIFIC REPORTS, VOLUME: 12, ISSUE: 1
AUTHORS: Albuquerque, J; Medeiros, AM; Alves, AC; Bourbon, M; Antunes, M;
PUBLISHED: 2022, SOURCE: SCIENTIFIC REPORTS, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia Full Text
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: CLINVAR LDLR VARIANT CLASSIFICATION VS FH VCEP LDLR SPECIFICATIONS Full Text
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS7
TITLE: FAMILIAL HYPERCHOLESTEROLEMIA - MONOGENIC, POLYGENIC OR BOTH? Full Text
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS8
TITLE: COMPARISON OF DIFFERENT LDL-C GENETIC RISK SCORE IN A SAMPLE OF CLINICAL FH PATIENTS Full Text
AUTHORS: Medeiros, A. M.; Alves, A. C. C.; Bourbon, M.;
PUBLISHED: 2022, SOURCE: ATHEROSCLEROSIS, VOLUME: 355
AUTHORS: Medeiros, A. M.; Alves, A. C. C.; Bourbon, M.;
PUBLISHED: 2022, SOURCE: ATHEROSCLEROSIS, VOLUME: 355
INDEXED IN: WOS
WOS9
TITLE: MIRNA TARGET-BINDING SITES AS REGULATORS OF GENES INVOLVED IN THE LIPID METABOLISM MIGHT EXPLAIN THE HYPERCHOLESTEROLAEMIA IN FH PATIENTS Full Text
AUTHORS: Medeiros, AM; Enguita, FJ; Bourbon, M;
PUBLISHED: 2021, SOURCE: ATHEROSCLEROSIS, VOLUME: 331
AUTHORS: Medeiros, AM; Enguita, FJ; Bourbon, M;
PUBLISHED: 2021, SOURCE: ATHEROSCLEROSIS, VOLUME: 331
INDEXED IN: WOS
WOS10
TITLE: Polygenic contribution for familial hypercholesterolemia (FH)
AUTHORS: Medeiros, AM; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 6
AUTHORS: Medeiros, AM; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 6
INDEXED IN: WOS
WOS