Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


AuthID: R-000-KH5

Publications Awaiting Confirmation

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
INDEXED IN: Scopus WOS
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TITLE: Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry  Full Text
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.; Benuck, Irwin; Kane, John P.; Myers, Kelly; Howard, William; Staszak, David; Jamison, Allison; Card, Mary C.; Bourbon, Mafalda; Chora, Joana R.; Rader, Daniel J.; Knowles, Joshua W.; Wilemon, Katherine; McGowan, Mary P.; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF THE AMERICAN HEART ASSOCIATION, VOLUME: 12, ISSUE: 9
INDEXED IN: Scopus WOS
3
TITLE: NGS Data Repurposing Allows Detection of tRNA Fragments as Gastric Cancer Biomarkers in Patient-Derived Extracellular Vesicles  Full Text
AUTHORS: Maqueda, Joaquin J.; Santos, Mafalda; Ferreira, Marta; Marinho, Sergio; Rocha, Sara; Rocha, Mafalda; Saraiva, Nadine; Bonito, Nuno; Carvalho, Joana; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 24, ISSUE: 10
INDEXED IN: Scopus WOS
4
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
INDEXED IN: WOS
5
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
INDEXED IN: WOS
6
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
INDEXED IN: WOS
7
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
INDEXED IN: WOS
8
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
INDEXED IN: WOS
9
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
INDEXED IN: Scopus WOS
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