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TITLE: MOLECULAR STUDY OF MODY: PRELIMINARY RESULTS FROM A SIX YEARS PROJECT  Full Text
AUTHORS: Crasto Vaz, Margarida da Fonte; 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: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
32
TITLE: Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
AUTHORS: Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano Bertolini; Mariko Harada-Shiba; Dirk J Blom; Frederick J Raal; Marina Cuchel; Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano A Bertolini; Mariko Harada-Shiba; Jing Pang; Gerald F Watts; Susanne Greber-Platzer; Martin Mäser; Thomas M Stulnig; Christoph F Ebenbichler; Khalid Bin Thani; David Cassiman; Olivier S Descamps; Daisy Rymen; Peter Witters; Raul D Santos; Liam R Brunham; Gordon A Francis; Jacques Genest; Robert A Hegele; Brooke A Kennedy; Isabelle Ruel; Mark H Sherman; Long Jiang; Luya Wang; Željko Reiner; Vladimir Blaha; Richard Ceska; Jana Dvorakova; Lubomir Dlouhy; Pavel Horak; Vladimir Soska; Lukas Tichy; Robin Urbanek; Helena Vaverkova; Michal Vrablik; Stanislav Zemek; Lukas Zlatohlavek; Sameh Emil; Tarek Naguib; Ashraf Reda; Sophie Béliard; Eric Bruckert; Antonio Gallo; Moses S Elisaf; Genovefa Kolovou; Hofit Cohen; Ronen Durst; Eldad J Dann; Avishay Elis; Osama Hussein; Eran Leitersdorf; Daniel Schurr; Nitika Setia; Ishwar C Verma; Mohammed D Alareedh; Mutaz Al-Khnifsawi; Ali F Abdalsahib Al-Zamili; Sabah H Rhadi; Foaad K Shaghee; Marcello Arca; Maurizio Averna; Andrea Bartuli; Marco Bucci; Paola S Buonuomo; Paolo Calabrò; Sebastiano Calandra; Manuela Casula; Alberico L Catapano; Angelo B Cefalù; Arrigo F.G Cicero; Sergio D'Addato; Laura D'Erasmo; Alessia Di Costanzo; Tommaso Fasano; Marta Gazzotti; Antonina Giammanco; Gabriella Iannuzzo; Anastasia Ibba; Emanuele A Negri; Andrea Pasta; Chiara Pavanello; Livia Pisciotta; Claudio Rabacchi; Carlo Ripoli; Tiziana Sampietro; Francesco Sbrana; Fulvio Sileo; Patrizia Suppressa; Patrizia Tarugi; Chiara Trenti; Maria G Zenti; Mika Hori; Mahmoud H Ayesh; Sami T Azar; Fadi F Bitar; Akl C Fahed; Elie M Moubarak; Georges Nemer; Hapizah M Nawawi; Ramón Madriz; Roopa Mehta; Arjen J Cupido; Joep C Defesche; Doortje D Reijman; Jeanine E Roeters-van Lennep; Erik S.G Stroes; Albert Wiegman; Linda Zuurbier; Khalid Al-Waili; Fouzia Sadiq; Krzysztof Chlebus; Mafalda Bourbon; Isabel M Gaspar; Katarina S Lalic; Marat V Ezhov; Andrey V Susekov; Urh Groselj; Min-Ji Charng; Weerapan Khovidhunkit; Melih Aktan; Bulent B Altunkeser; Sinan Demircioglu; Melis Kose; Cumali Gokce; Osman Ilhan; Meral Kayikcioglu; Leyla G Kaynar; Irfan Kuku; Erdal Kurtoglu; Harika Okutan; Osman I Ozcebe; Zafer Pekkolay; Saim Sag; Osman Z Salcioglu; Ahmet Temizhan; Mustafa Yenercag; Mehmet Yilmaz; Hamiyet Yilmaz Yasar; Olena Mitchenko; Alexander R.M Lyons; Christophe A.T Stevens; Julie A Brothers; Lisa C Hudgins; Christina Nguyen; Rano Alieva; Aleksandr Shek; Doan-Loi Do; Ngoc-Thanh Kim; Hong-An Le; Thanh-Tung Le; Mai-Ngoc T Nguyen; Thanh-Huong Truong; Dirk J Blom; Frederick J Raal; Marina Cuchel; ...More
PUBLISHED: 2022, SOURCE: The Lancet, VOLUME: 399, ISSUE: 10326
INDEXED IN: CrossRef: 81
IN MY: ORCID
33
TITLE: Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia
AUTHORS: Correia, M; Kagenaar, E; van Schalkwijk, DB; Bourbon, M; Gama Carvalho, M;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
34
TITLE: Pharmacogenomics of statins and familial hypercholesterolemia
AUTHORS: Chora, JR; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 2
INDEXED IN: Scopus WOS
35
TITLE: Dental implant Retentive Force Analysis
AUTHORS: Soares, C; Cortez, A; Sampaio, M; Gobbo, P; Natal, R ; Joaquim Mendes ;
PUBLISHED: 2021, SOURCE: Conference of the Global-Medical-Engineering-Physics-Exchanges/Pan-American-Health-Care-Exchanges (GMEPE/PAHCE) in 2021 GLOBAL MEDICAL ENGINEERING PHYSICS EXCHANGES/PAN AMERICAN HEALTH CARE EXCHANGES (GMEPE/PAHCE), VOLUME: 2021-May
INDEXED IN: Scopus WOS CrossRef
36
TITLE: LDLR variants functional characterization: Contribution to variant classification
AUTHORS: Alves, AC; Azevedo, S; Benito Vicente, A; Graca, R; Galicia Garcia, U; Barros, P; Jordan, P; Martin, C; Bourbon, M;
PUBLISHED: 2021, SOURCE: ATHEROSCLEROSIS, VOLUME: 329
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID
37
TITLE: Characterization of two variants at met 1 of the human ldlr gene encoding the same amino acid but causing different functional phenotypes
AUTHORS: Graça, R; Fernandes, R; Alves, AC; Menezes, J; Romão, L; Bourbon, M;
PUBLISHED: 2021, SOURCE: Biomedicines, VOLUME: 9, ISSUE: 9
INDEXED IN: Scopus CrossRef: 5
IN MY: ORCID
38
TITLE: Applicability of Martin-Hopkins formula and comparison with Friedewald formula for estimated low-density lipoprotein cholesterol in e_COR study population
AUTHORS: Ferrinho, C; Alves, AC; Bourbon, M; Duarte, S;
PUBLISHED: 2021, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 40, ISSUE: 10
INDEXED IN: WOS CrossRef: 2
IN MY: ORCID
39
TITLE: Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
AUTHORS: Vallejo Vaz, AJ; Stevens, CAT; Lyons, ARM; Dharmayat, KI; Freiberger, T; Hovingh, GK; Mata, P; Raal, FJ; Santos, RD; Soran, H; Watts, GF; Abifadel, M; Aguilar Salinas, CA; Alhabib, KF; Alkhnifsawi, M; Almahmeed, W; Alnouri, F; Alonso, R; Al Rasadi, K; Al Sarraf, A; Al Sayed, N; Araujo, F; Ashavaid, TF; Banach, M; Beliard, S; Benn, M; Binder, CJ; Bogsrud, MP; Bourbon, M; Chlebus, K; Corral, P; Davletov, K; Descamps, OS; Durst, R; Ezhov, M; Gaita, D; Genest, J; Groselj, U; Harada Shiba, M; Holven, KB; Kayikcioglu, M; Khovidhunkit, W; Lalic, K; Latkovskis, G; Laufs, U; Liberopoulos, E; Lima Martinez, MM; Lin, J; Maher, V; Marais, AD; Marz, W; Mirrakhimov, E; Miserez, AR; Mitchenko, O; Nawawi, H; Nordestgaard, BG; Panayiotou, AG; Paragh, G; Petrulioniene, Z; Pojskic, B; Postadzhiyan, A; Raslova, K; Reda, A; Reiner, Z; Sadiq, F; Sadoh, WE; Schunkert, H; Shek, AB; Stoll, M; Stroes, E; Su, TC; Subramaniam, T; Susekov, AV; Tilney, M; Tomlinson, B; Truong, TH; Tselepis, AD; Tybjaerg Hansen, A; Cardenas, AV; Viigimaa, M; Wang, LY; Yamashita, S; Tokgozoglu, L; Catapano, AL; Ray, KK; ...More
PUBLISHED: 2021, SOURCE: LANCET, VOLUME: 398, ISSUE: 10312
INDEXED IN: WOS CrossRef: 147
IN MY: ORCID
40
TITLE: Polygenic contribution for familial hypercholesterolemia (FH)
AUTHORS: Medeiros, AM; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 6
INDEXED IN: WOS CrossRef: 2
IN MY: ORCID
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