Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel


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Publications Requiring Validation

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TITLE: THE USE OF GENE-SPECIFIC CLASSIFICATION GUIDELINES VS ACMG 2015: MODY CASE STUDY  Full Text
AUTHORS: Dario, Paulo; Vaz, Margarida; Gaspar, Gisela; Bourbon, Mafalda;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
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TITLE: Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry
AUTHORS: Elshorbagy, Amany; Vallejo Vaz, Antonio J.; Barkas, Fotios; Lyons, Alexander R. M.; Stevens, Christophe A. T.; Dharmayat, Kanika I.; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar Salinas, Carlos A.; Alhabib, Khalid F.; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al Rasadi, Khalid; Al Sarraf, Ahmad; Arca, Marcello; Ashavaid, Tester F.; Averna, Maurizio; Banach, Maciej; Becker, Marianne; Binder, Christoph J.; Bourbon, Mafalda; Brunham, Liam R.; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Davletov, Kairat; Descamps, Olivier S.; Dwiputra, Bambang; Ezhov, Marat; Groselj, Urh; Harada Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Kayikcioglu, Meral; Khovidhunkit, Weerapan; Lalic, Katarina; Latkovskis, Gustavs; Laufs, Ulrich; Liberopoulos, Evangelos; Lima Martinez, Marcos M.; Maher, Vincent; Marais, A. David; Maerz, Winfried; Mirrakhimov, Erkin; Miserez, Andre R.; Mitchenko, Olena; Nawawi, Hapizah; Nordestgaard, Borge G.; Panayiotou, Andrie G.; Paragh, Gyoergy; Petrulioniene, Zaneta; Pojskic, Belma; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Zeljko; Reyes, Ximena; Sadiq, Fouzia; Sadoh, Wilson Ehidiamen; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Erik; Su, Ta Chen; Subramaniam, Tavintharan; Susekov, Andrey V.; Tilney, Myra; Tomlinson, Brian; Truong, TH; Tselepis, Alexandros D.; Tybjaerg Hansen, Anne; Vazquez Cardenas, Alejandra; Viigimaa, Margus; Vohnout, Branislav; Yamashita, Shizuya; Ray, Kausik K.; ...More
PUBLISHED: 2025, SOURCE: EUROPEAN HEART JOURNAL, VOLUME: 46, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
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TITLE: Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
AUTHORS: Kafol, Jan; Miranda, Beatriz; Sikonja, Rok; Sikonja, Jaka; Wiegman, Albert; Medeiros, Ana Margarida; Alves, Ana Catarina; Freiberger, Tomas; Hutten, Barbara A.; Mlinaric, Matej; Battelino, Tadej; Humphries, Steve E.; Bourbon, Mafalda; Groselj, Urh;
PUBLISHED: 2025, SOURCE: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
INDEXED IN: WOS CrossRef: 2
IN MY: ORCID
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TITLE: Aplicación de un programa piloto de pesquisa de hipercolesterolemia familiar en un centro hospitalario de alta complejidad  Full Text
AUTHORS: Claudia Radojkovic; Paula Honorato; René Portiño; Catalina Martínez; Katia Saez; Mafalda Bourbon; Isabel Muñoz; Cristóbal Alvarado; Enrique Guzmán; Paulina Bustos; Rodrigo Alonso; Andrea Sánchez;
PUBLISHED: 2025, SOURCE: Revista médica de Chile, VOLUME: 153, ISSUE: 5
INDEXED IN: CrossRef
IN MY: ORCID
7
TITLE: Functional characterization of 16 variants found in the low-density lipoprotein receptor (LDLR) gene
AUTHORS: Kateřina Konečná; Tereza Přerovská; Tomáš Loja; Lenka Fajkusová; Jana Koutná; Michal Kramárek; Ana Catarina Alves; Mafalda Bourbon; Tomáš Freiberger; Lukáš Tichý;
PUBLISHED: 2025, SOURCE: Journal of Lipid Research
INDEXED IN: CrossRef
IN MY: ORCID
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TITLE: The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR
AUTHORS: Daniel R Tabet; Atina G Coté; Megan C Lancaster; Jochen Weile; Ashyad Rayhan; Iosifina Fotiadou; Nishka Kishore; Roujia Li; Da Kuang; Jennifer J Knapp; Carmela Serio Carrero; Olivia Taverniti; Anna Axakova; Jack M.P Castelli; Mohammad Majharul Islam; Shahin Sowlati-Hashjin; Aanshi Gandhi; Ranim Maaieh; Michael Garton; Kenneth Matreyek; Douglas M Fowler; Mafalda Bourbon; Simon G Pfisterer; Andrew M Glazer; Brett M Kroncke; Victoria N Parikh; Euan A Ashley; Joshua W Knowles; Melina Claussnitzer; Elizabeth T Cirulli; Robert A Hegele; Dan M Roden; Calum A MacRae; Frederick P Roth; ...More
PUBLISHED: 2025, SOURCE: Science
INDEXED IN: CrossRef: 1
IN MY: ORCID
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TITLE: Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 65, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
10
TITLE: Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
AUTHORS: Janneke C M Mulder; Tycho Tromp; Mutaz Al Khnifsawi; Dirk Blom; Krysztof Chlebus; Marina Cuchel; Laura D'Erasmo; Antonio Gallo; Kees Hovingh; Ngoc Thanh Kim; Jiang Long; Frederick Raal; Willemijn M Schonck; Handrean Soran; Thanh-Huong Truong; Eric Boersma; Jeanine Roeters van Lennep; Mohammed Alareedh; Rano Alieva; Massimiliano Allevi; Bulent Altunkeser; Khalid Al Waili; Ali Al Zamili; Marcello Arca; Luigi Atzori; Maurizio Averna; Mahmoud Ayesh; Sami Azar; Giuseppe Banderali; Francesco Baratta; Andrea Bartuli; Sophie Béliard; Vanessa Bianconi; Simone Bini; Khalid Bin Thani; Fadi Bitar; Vladimir Blaha; Katia Bonomo; Mafalda Bourbon; Adriana Branchi; Julie Brothers; Eric Bruckert; Liam Brunham; Patrizia Bruzzi; Marco Bucci; Paola Buonuomo; Paolo Calabrò; Sebastiano Calandra; Francesca Carubbi; David Cassiman; Manuela Casula; Alberico Catapano; Franco Cavalot; Angelo Cefalù; Arturo Cesaro; Richard Ceska; Min-Ji Charng; Francesco Cipollone; Hofit Cohen; Sergio D'Addato; Beatrice Dal Pino; Eldad Dann; Joep Defesche; Maria Del Ben; Sinan Demircioglu; Olivier Descamps; Alessia Di Costanzo; Maria Di Taranto; Doan-Loi; Ronen Durst; Jana Dvorakova; Christoph Ebenbichler; Avishay Elis; Sameh Emil; Marat Ezhov; Akl Fahed; Tommaso Fasano; Claudio Ferri; Federica Fogacci; Elena Formisano; Giuliana Fortunato; Gordon Francis; Tomas Freiberger; Federica Galimberti; Isabel Gaspar; Jacques Genest; Marco Gentile; Antonina Giammanco; Cumali Gokce; Susanne Greber Platzer; Liliana Grigore; Urh Groselj; Mariko Harada Shiba; Merel Hartgers; Robert Hegele; Pavel Horak; Mika Hori; Lisa Hudgins; Osama Hussein; Gabriella Iannuzzo; Osman Ilhan; Lorenzo Iughetti; Meral Kayikcioglu; Leyla Kaynar; Brooke Kennedy; Weerapan Khovidhunkit; Genovefa Kolovou; Melis Kose; Irfan Kuku; Erdal Kurtoglu; Katarina Lalic; Hong-An Le; Thanh-Tung Le; Eran Leitersdorf; Evangelos Liberopoulos; Alexander M Lyons; Ramón Madriz; Giuseppe Mandraffino; Martin Mäser; Roopa Mehta; Olena Mitchenko; Giuliana Mombelli; Tiziana Montalcini; Carmela Morace; Elie Moubarak; Sandro Muntoni; Tarek Naguib; Fabio Nascimbeni; Hapizah Nawawi; Georges Nemer; Mai-Ngoc Nguyen; Serena Notargiacomo; Harika Okutan; Osman Ozcebe; Jing Pang; Angelina Passaro; Chiara Pavanello; Lorenzo Pecchioli; Valerio Pecchioli; Cristina Pederiva; Zafer Pekkolay; Fabio Pellegatta; Salvatore Piro; Matteo Pirro; Livia Pisciotta; Arturo Pujia; Kausik Ray; Ashraf Reda; Doortje Reijman; Željko Reiner; Sabah Rhadi; Luigi Rizzi; Alessandra Romandini; Isabelle Ruel; Daisy Rymen; Fouzia Sadiq; Saim Sag; Osman Salcioglu; Raul Santos; Juana Sanz; Riccardo Sarzani; Francesco Sbrana; Daniel Schurr; Roberto Scicali; Nitika Setia; Foaad Shaghee; Aleksandr Shek; Mark Sherman; Vladimir Soska; Christophe T Stevens; Erik G Stroes; Thomas Stulnig; Patrizia Suppressa; Andrey Susekov; Patrizia Tarugi; Ahmet Temizhan; Lukas Tichy; Chiara Trenti; Robin Urbanek; Antonio Vallejo Vaz; Helena Vaverkova; Ishwar Verma; Michal Vrablik; Luya Wang; Gerald Watts; José Werba; Albert Wiegman; Peter Witters; Mustafa Yenercag; Mehmet Yilmaz; Hamiyet Yilmaz Yasar; Alberto Zambon; Sabina Zambon; Stanislav Zemek; Maria Zenti; Lukas Zlatohlavek; Linda Zuurbier; ...More
PUBLISHED: 2024, SOURCE: JAMA Cardiology, VOLUME: 9, ISSUE: 4
INDEXED IN: Scopus CrossRef: 15
IN MY: ORCID
Page 1 of 13. Total results: 129.

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