Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


AuthID: R-000-KH5

Publications Awaiting Confirmation

51
TITLE: Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
AUTHORS: Sturm, AC; Knowles, JW; Gidding, SS; Ahmad, ZS; Ahmed, CD; Ballantyne, CM; Baum, SJ; Bourbon, M; Carrié, A; Cuchel, M; de Ferranti, SD; Defesche, JC; Freiberger, T; Hershberger, RE; Hovingh, GK; Karayan, L; Kastelein, JJP; Kindt, I; Lane, SR; Leigh, SE; Linton, MF; Mata, P; Neal, WA; Nordestgaard, BG; Santos, RD; Harada Shiba, M; Sijbrands, EJ; Stitziel, NO; Yamashita, S; Wilemon, KA; Ledbetter, DH; Rader, DJ; ...More
PUBLISHED: 2018, SOURCE: Journal of the American College of Cardiology, VOLUME: 72, ISSUE: 6
INDEXED IN: Scopus
IN MY: ORCID
52
TITLE: Clinical Genetic Testing for Familial Hypercholesterolemia
AUTHORS: Sturm, AC; Knowles, JW; Gidding, SS; Ahmad, ZS; Ahmed, CD; Ballantyne, CM; Baum, SJ; Bourbon, M; Carrie, A; Cuchel, M; de Ferranti, SD; Defesche, JC; Freiberger, T; Hershberger, RE; Hovingh, GK; Karayan, L; Kastelein, JJP; Kindt, I; Lane, SR; Leigh, SE; Linton, MF; Mata, P; Neal, WA; Nordestgaard, BG; Santos, RD; Harada Shiba, M; Sijbrands, EJ; Stitziel, NO; Yamashita, S; Wilemon, KA; Ledbetter, DH; Rader, DJ; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, VOLUME: 72, ISSUE: 6
INDEXED IN: WOS CrossRef: 402
IN MY: ORCID
53
TITLE: Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia
AUTHORS: Alves, AC; Benito Vicente, A; Medeiros, AM; Reeves, K; Martin, C; Bourbon, M;
PUBLISHED: 2018, SOURCE: ATHEROSCLEROSIS, VOLUME: 277
INDEXED IN: Scopus WOS CrossRef: 22 Handle
IN MY: ORCID
54
TITLE: Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
AUTHORS: Vallejo Vaz, AJ; De Marco, M; Stevens, CAT; Akram, A; Freiberger, T; Hovingh, GK; Kastelein, JJP; Mata, P; Raal, FJ; Santos, RD; Soran, H; Watts, GF; Abifadel, M; Aguilar Salinas, CA; Al Khnifsawi, M; AlKindi, FA; Alnouri, F; Alonso, R; Al Rasadi, K; Al Sarraf, A; Ashavaid, TF; Binder, CJ; Bogsrud, MP; Bourbon, M; Bruckert, E; Chlebus, K; Corral, P; Descamps, O; Durst, R; Ezhov, M; Fras, Z; Genest, J; Groselj, U; Harada Shiba, M; Kayikcioglu, M; Lalic, K; Lam, CSP; Latkovskis, G; Laufs, U; Liberopoulos, E; Lin, J; Maher, V; Majano, N; Marais, AD; Marz, W; Mirrakhimov, E; Miserez, AR; Mitchenko, O; Nawawi, HM; Nordestgaard, BG; Paragh, G; Petrulioniene, Z; Pojskic, B; Postadzhiyan, A; Reda, A; Reiner, Z; Sadoh, WE; Sahebkar, A; Shehab, A; Shek, AB; Stoll, M; Su, TC; Subramaniam, T; Susekov, AV; Symeonides, P; Tilney, M; Tomlinson, B; Truong, TH; Tselepis, AD; Tybjaerg Hansenb, A; Vazquez Cardenas, A; Viigimaa, M; Vohnout, B; Widen, E; Yamashita, S; Banach, M; Gaita, D; Jiang, LX; Nilsson, L; Santos, LE; Schunkert, H; Tokgozoglu, L; Car, J; Catapano, AL; Ray, KK; ...More
PUBLISHED: 2018, SOURCE: ATHEROSCLEROSIS, VOLUME: 277
INDEXED IN: Scopus WOS CrossRef: 153 Handle
IN MY: ORCID
55
TITLE: Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia
AUTHORS: Futema, M; Bourbon, M; Williams, M; Humphries, SE;
PUBLISHED: 2018, SOURCE: ATHEROSCLEROSIS, VOLUME: 277
INDEXED IN: Scopus WOS CrossRef: 40 Handle
IN MY: ORCID
56
TITLE: ClinVar database of global familial hypercholesterolemia-associated DNA variants
AUTHORS: Iacocca, MA; Chora, JR; Carrie, A; Freiberger, T; Leigh, SE; Defesche, JC; Kurtz, CL; DiStefano, MT; Santos, RD; Humphries, SE; Mata, P; Jannes, CE; Hooper, AJ; Wilemon, KA; Benlian, P; O'Connor, R; Garcia, J; Wand, H; Tichy, L; Sijbrands, EJ; Hegele, RA; Bourbon, M; Knowles, JW; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 86 Handle
IN MY: ORCID
57
TITLE: No evidence for lower levels of serum vitamin d in the presence of hepatic steatosis. A study on the portuguese general population
AUTHORS: Leitão, J; Carvalhana, S; Silva, AP; Velasco, F; Medeiros, I; Alves, AC; Bourbon, M; Oliveiros, B; Carvalho, A; Cortez Pinto, H;
PUBLISHED: 2018, SOURCE: International Journal of Medical Sciences, VOLUME: 15, ISSUE: 14
INDEXED IN: Scopus CrossRef: 9 Handle
IN MY: ORCID
58
TITLE: Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: Application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
AUTHORS: Joana Rita Chora; Ana Margarida Medeiros; Ana Catarina Alves; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Genetics in Medicine, VOLUME: 20, ISSUE: 6
INDEXED IN: Scopus CrossRef: 88
IN MY: ORCID
59
TITLE: Improving Familial Hypercholesterolaemia Diagnosis – Functional in Vitro Analysis of LDLR Missense Variants Found in the Portuguese FH Cohort
AUTHORS: Ana C Alves; Rafael Graça; Mafalda Bourbon;
PUBLISHED: 2018, SOURCE: Atherosclerosis Supplements, VOLUME: 32
INDEXED IN: CrossRef
IN MY: ORCID
60
Page 6 of 12. Total results: 113.

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