Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
1
TITLE: Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, ISSUE: 2
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, ISSUE: 2
2
TITLE: Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS3
TITLE: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
4
TITLE: Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
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
5
TITLE: Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
AUTHORS: Cuchel, Marina; Lee, Paul C.; Hudgins, Lisa C.; Duell, P. Barton; Ahmad, Zahid; Baum, Seth J.; Linton, MacRae F.; de Ferranti, Sarah D.; Ballantyne, Christie M.; Larry, John A.; Hemphill, Linda C.; Kindt, Iris; Gidding, Samuel S.; Martin, Seth S.; Moriarty, Patrick M.; Thompson, Paul P.; Underberg, James A.; Guyton, John R.; Andersen, Rolf L.; Whellan, David J.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
AUTHORS: Cuchel, Marina; Lee, Paul C.; Hudgins, Lisa C.; Duell, P. Barton; Ahmad, Zahid; Baum, Seth J.; Linton, MacRae F.; de Ferranti, Sarah D.; Ballantyne, Christie M.; Larry, John A.; Hemphill, Linda C.; Kindt, Iris; Gidding, Samuel S.; Martin, Seth S.; Moriarty, Patrick M.; Thompson, Paul P.; Underberg, James A.; Guyton, John R.; Andersen, Rolf L.; Whellan, David J.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
6
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
7
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
WOS8
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
WOS9
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
WOS10
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
WOS