Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
11
TITLE: Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
AUTHORS: Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espirito; Silva, Raquel Gouveia; Cardoso, Sandra Soares; Diogo, Luisa; Seidi, Monica; Sequeira, Silvia; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: FRONTIERS IN GENETICS, VOLUME: 13
AUTHORS: Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espirito; Silva, Raquel Gouveia; Cardoso, Sandra Soares; Diogo, Luisa; Seidi, Monica; Sequeira, Silvia; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: FRONTIERS IN GENETICS, VOLUME: 13
12
TITLE: MOLECULAR STUDY OF MODY: LATEST RESULTS FROM 2011 TO 2022 Full Text
AUTHORS: Vaz, Margarida; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, Joao Sequeira; Sampaio, Maria De Lurdes; Dario, Paulo; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Vaz, Margarida; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, Joao Sequeira; Sampaio, Maria De Lurdes; Dario, Paulo; 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
WOS13
TITLE: FUNCTIONAL CHARACTERIZATION OF APOB VARIANTS FROM FAMILIAL HYPERCHOLESTEROLEMIA CASES Full Text
AUTHORS: Ferreira, Maria S.; Bourbon, Mafalda; Alves, Ana C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Ferreira, Maria S.; Bourbon, Mafalda; Alves, Ana C.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS14
TITLE: FIRST YEAR OF LDLR VARIANT CLASSIFICATION FROM THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANEL Full Text
AUTHORS: Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Chora, Joana Rita; 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
WOS15
TITLE: NEXT GENERATION SEQUENCING - A KEY TOOL FOR DIAGNOSIS AND INVESTIGATION OF FAMILIAL DYSLIPIDEMIAS Full Text
AUTHORS: Miranda, Beatriz R.; 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: Miranda, Beatriz R.; 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
WOS16
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
WOS17
TITLE: Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
AUTHORS: Latkovskis, Gustavs; Rescenko Krums, Raimonds; Nesterovics, Georgijs; Briviba, Monta; Saripo, Vita; Gilis, Dainus; Terauda, Elizabete; Meiere, Ruta; Skudrina, Gunda; Erglis, Andrejs; Chora, Joana Rita; Bourbon, Mafalda; Klovins, Janis;
PUBLISHED: 2023, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 12, ISSUE: 15
AUTHORS: Latkovskis, Gustavs; Rescenko Krums, Raimonds; Nesterovics, Georgijs; Briviba, Monta; Saripo, Vita; Gilis, Dainus; Terauda, Elizabete; Meiere, Ruta; Skudrina, Gunda; Erglis, Andrejs; Chora, Joana Rita; Bourbon, Mafalda; Klovins, Janis;
PUBLISHED: 2023, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 12, ISSUE: 15
18
TITLE: The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus: Proteomic and Quantitative PCR Analysis
AUTHORS: Andre, Rebeca; Pacheco, Rita; Alves, Ana Catarina; Santos, Hugo M. M.; Bourbon, Mafalda; Serralheiro, Maria Luisa;
PUBLISHED: 2023, SOURCE: FOODS, VOLUME: 12, ISSUE: 14
AUTHORS: Andre, Rebeca; Pacheco, Rita; Alves, Ana Catarina; Santos, Hugo M. M.; Bourbon, Mafalda; Serralheiro, Maria Luisa;
PUBLISHED: 2023, SOURCE: FOODS, VOLUME: 12, ISSUE: 14
19
TITLE: High-Throughput Microscopy Characterization of Rare LDLR Variants
AUTHORS: Rafael Graça; Magdalena Zimon; Ana Alves; Rainer Pepperkok; Mafalda Bourbon;
PUBLISHED: 2023, SOURCE: JACC: Basic to Translational Science, VOLUME: 8, ISSUE: 8
AUTHORS: Rafael Graça; Magdalena Zimon; Ana Alves; Rainer Pepperkok; Mafalda Bourbon;
PUBLISHED: 2023, SOURCE: JACC: Basic to Translational Science, VOLUME: 8, ISSUE: 8
20
TITLE: Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults
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
