Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
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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; ...More
PUBLISHED: 2025, SOURCE: EUROPEAN HEART JOURNAL, VOLUME: 46, ISSUE: 12
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; ...More
PUBLISHED: 2025, SOURCE: EUROPEAN HEART JOURNAL, VOLUME: 46, ISSUE: 12
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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
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
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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
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
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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
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
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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
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
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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; ...More
PUBLISHED: 2024, SOURCE: JAMA Cardiology, VOLUME: 9, ISSUE: 4
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; ...More
PUBLISHED: 2024, SOURCE: JAMA Cardiology, VOLUME: 9, ISSUE: 4
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TITLE: Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
AUTHORS: Rossi, Niccolo; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.; Falchi, Mario;
PUBLISHED: 2024, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 9, ISSUE: 1
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TITLE: Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
AUTHORS: Kanika Inamdar Dharmayat; Antonio J Vallejo-Vaz; Christophe A.T Stevens; Julia M Brandts; Alexander R.M Lyons; Urh Groselj; Marianne Abifadel; Carlos A Aguilar-Salinas; Khalid Alhabib; Mutaz Alkhnifsawi; Wael Almahmeed; Fahad Alnouri; Rodrigo Alonso; Khalid Al-Rasadi; Tester F Ashavaid; Maciej Banach; Sophie Béliard; Christoph Binder; Mafalda Bourbon; Krzysztof Chlebus; ...More
PUBLISHED: 2024, SOURCE: The Lancet, VOLUME: 403, ISSUE: 10421
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TITLE: EXCESS OF VARIANTS IDENTIFIED IN LIPID GENES AS AN ALTERNATIVE CAUSE OF HIGH LDLC IN INDIVIDUALS WITH FH-PHENOTYPE Full Text
AUTHORS: Medeiros, Ana; Alves, Ana Catarina; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
AUTHORS: Medeiros, Ana; Alves, Ana Catarina; Bourbon, Mafalda;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
INDEXED IN: 
WOS
WOS10
TITLE: SPECTRUM OF GENE VARIANTS IN CHILDREN AND ADULTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLAEMIA (FH) ACROSS WORLD REGIONS: A STUDY BY THE EAS-FH STUDIES COLLABORATION (FHSC) Full Text
AUTHORS: Elshorbagy, Amany; Stevens, Christophe; Vallejo Vaz, Antonio; Dharmayat, Kanika; Lyons, Alexander; Bourbon, Mafalda; Chora, Joana; Humphries, Steve; Catapano, Alberico; Hovingh, G.; Mata, Pedro; Santos, Raul; Soran, Handrean; Watts, Gerald; Raal, Frederick J.; Freiberger, Tomas; Ray, Kausik;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
AUTHORS: Elshorbagy, Amany; Stevens, Christophe; Vallejo Vaz, Antonio; Dharmayat, Kanika; Lyons, Alexander; Bourbon, Mafalda; Chora, Joana; Humphries, Steve; Catapano, Alberico; Hovingh, G.; Mata, Pedro; Santos, Raul; Soran, Handrean; Watts, Gerald; Raal, Frederick J.; Freiberger, Tomas; Ray, Kausik;
PUBLISHED: 2024, SOURCE: ATHEROSCLEROSIS, VOLUME: 395
INDEXED IN: WOS
WOS