Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


AuthID: R-000-KH5

Publications Awaiting Confirmation

61
TITLE: Hepatitis B and C prevalence in Portugal: disparity between the general population and high-risk groups
AUTHORS: Sofia C Carvalhana; Jorge Leitao; Ana C Alves; Mafalda Bourbon; Helena Cortez Pinto;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 28, ISSUE: 6
INDEXED IN: WOS
62
TITLE: Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal
AUTHORS: Vania Gaio; Isabel Picanco; Baltazar Nunes; Aida Fernandes; Francisco Mendonca; Filomena Horta Correia; Alvaro Beleza; Ana Paula Gil; Mafalda Bourbon; Astrid Vicente; Carlos Matias Dias; Marta Barreto da Silva;
PUBLISHED: 2015, SOURCE: PUBLIC HEALTH GENOMICS, VOLUME: 18, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
63
TITLE: Characterization of the First PCSK9 Gain of Function Homozygote  Full Text
AUTHORS: Ana Catarina Alves; Aitor Etxebarria; Ana Margarida Medeiros; Asier Benito Vicente; Aurelie Thedrez; Maxime Passard; Mikael Croyal; Cesar Martin; Gilles Lambert; Mafalda Bourbon;
PUBLISHED: 2015, SOURCE: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, VOLUME: 66, ISSUE: 19
INDEXED IN: WOS CrossRef
64
TITLE: Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity  Full Text
AUTHORS: Fernandez Higuero, JA; Etxebarria, A; Benito Vicente, A; Alves, AC; Arrondo, JLR; Ostolaza, H; Bourbon, M; Martin, C;
PUBLISHED: 2015, SOURCE: SCIENTIFIC REPORTS, VOLUME: 5
INDEXED IN: Scopus WOS
65
TITLE: The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia
AUTHORS: Asier Benito Vicente; Ana Catarina Alves; Aitor Etxebarria; Ana Medeiros Medeiros; Cesar Martin; Mafalda Bourbon;
PUBLISHED: 2015, SOURCE: GENETICS IN MEDICINE, VOLUME: 17, ISSUE: 12
INDEXED IN: WOS
66
TITLE: Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
AUTHORS: Paul N Hopkins; Joep Defesche; Sigrid W Fouchier; Eric Bruckert; Gerald Luc; Bertrand Cariou; Barbara Sjouke; Trond P Leren; Mariko Harada Shiba; Hiroshi Mabuchi; Jean Pierre Rabes; Alain Carrie; Charles van Heyningen; Valerie Carreau; Michel Farnier; Yee P Teoh; Mafalda Bourbon; Masa aki Kawashiri; Atsushi Nohara; Handrean Soran; David D Marais; Hayato Tada; Marianne Abifadel; Catherine Boileau; Bernard Chanu; Shoji Katsuda; Ichiro Kishimoto; Gilles Lambert; Hisashi Makino; Yoshihiro Miyamoto; Matthieu Pichelin; Kunimasa Yagi; Masakazu Yamagishi; Yassine Zair; Scott Mellis; George D Yancopoulos; Neil Stahl; Johanna Mendoza; Yunling L Du; Sara Hamon; Michel Krempf; Gary D Swergold; ...More
PUBLISHED: 2015, SOURCE: CIRCULATION-CARDIOVASCULAR GENETICS, VOLUME: 8, ISSUE: 6
INDEXED IN: WOS CrossRef
67
68
TITLE: Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia
AUTHORS: Ana Catarina Alves; Aitor Etxebarria; Anne Katherine Soutar; Cesar Martin; Mafalda Bourbon;
PUBLISHED: 2014, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 23, ISSUE: 7
INDEXED IN: Scopus WOS
IN MY: ORCID
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