Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
21
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
WOS22
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
23
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
24
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
25
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
26
TITLE: Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
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
27
TITLE: Functional characterization of variants in the 5UTR and promoter of PCK9 gene
AUTHORS: Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romao, Luisa; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romao, Luisa; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS28
TITLE: Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants
AUTHORS: Graça, R; Alves, AC; Zimon, M; Pepperkok, R; Bourbon, M;
PUBLISHED: 2022, SOURCE: Journal of Clinical Lipidology, VOLUME: 16, ISSUE: 4
AUTHORS: Graça, R; Alves, AC; Zimon, M; Pepperkok, R; Bourbon, M;
PUBLISHED: 2022, SOURCE: Journal of Clinical Lipidology, VOLUME: 16, ISSUE: 4
29
TITLE: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
30
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
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
