11
TITLE: The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes  Full Text
AUTHORS: Cibelle Mariano; Ana Catarina Alves; Ana Margarida Medeiros; Joana Rita Chora; Marilia Antunes; Marta Futema; Steve E Humphries; Mafalda Bourbon;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 97, ISSUE: 3
INDEXED IN: Scopus WOS
12
TITLE: Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
AUTHORS: Ana Catarina Alves; Rodrigo Alonso; Jose Luis Diaz Diaz; Ana Margarida Medeiros; Cinthia E Jannes; Alonso Merchan; Norma A Vasques Cardenas; Ada Cuevas; Ana Paula Chacra; Jose E Krieger; Raquel Arroyo; Francisco Arrieta; Laura Schreier; Pablo Corral; Virginia G Banares; Maria B Araujo; Paula Bustos; Sylvia Asenjo; Mario Stoll; Nicolas Dell'Oca; Maria Reyes; Andres Ressia; Rafael Campo; Maria T Magana Torres; Roopa Metha; Carlos A Aguilar Salinas; Jose J Ceballos Macias; Alvaro J R Ruiz Morales; Pedro Mata; Mafalda Bourbon; Raul D Santos; ...More
PUBLISHED: 2020, SOURCE: ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, VOLUME: 40, ISSUE: 10
INDEXED IN: Scopus WOS
14
TITLE: PEDIATRIC FAMILIAL HYPERCHOLESTEROLAEMIA  Full Text
AUTHORS: Abrantes, LB; Alves, AC; Medeiros, AM; Correia, S; Cruz, A; Ferreira, A; Lobarinhas, G; Garcia, P; Guerra, A; Mansilha, H; Martins, E; Martins, P; Salgado, J; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS
15
TITLE: FUNCTIONAL CHARACTERIZATION OF LDL RECEPTOR GENE VARIANTS FOUND IN PATIENTS WITH CLINICAL DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA  Full Text
AUTHORS: Alves, AC; Graca, R; Abrantes, L; Medeiros, AM; Fernandes, R; Menezes, J; Romao, L; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS
16
TITLE: FH PHENOTYPE: MONOGENIC, POLYGENIC OR OTHER CAUSES?  Full Text
AUTHORS: Mariano, C; Alves, AC; Medeiros, AM; Chora, JR; Futema, M; Humphries, SE; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS
17
TITLE: HIGH LIPOPROTEIN(A) CHOLESTEROL IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA  Full Text
AUTHORS: Medeiros, AM; Alves, AC; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS
18
TITLE: FUNCTIONAL GENOMICS IN A COHORT OF FH MUTATION NEGATIVE PATIENTS  Full Text
AUTHORS: Rossi, N; Graca, R; Medeiros, AM; Abrantes, L; Alves, AC; Zimon, M; Rausch, T; Benes, V; Pepperkok, R; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS
19
TITLE: Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries  Full Text
AUTHORS: Raul D Santos; Mafalda Bourbon; Rodrigo Alonso; Ada Cuevas; Norma Alexandra Vasques Cardenas; Alexandre C Pereira; Alonso M Villamizar; Ana Catarina Alves; Ana Margarida Medeiros; Cinthia E Jannes; Jose E Krieger; Laura Schreier; Leopoldo Perez de Isla; Maria Teresa Magana Torres; Mario Stoll; Nelva Mata; Nicolas Dell Oca; Pablo Corral; Sylvia Asenjo; Virginia G Banares; Ximena Reyes; Pedro Mata; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF CLINICAL LIPIDOLOGY, VOLUME: 11, ISSUE: 1
INDEXED IN: WOS
20
TITLE: Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?  Full Text
AUTHORS: Joana Rita Chora; Ana Catarina Alves; Ana Margarida Medeiros; Cibelle Mariano; Goreti Lobarinhas; Antonio Guerra ; Helena Mansilha; Helena Cortez Pinto; Mafalda Bourbon;
PUBLISHED: 2017, SOURCE: JOURNAL OF CLINICAL LIPIDOLOGY, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS
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