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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: pradignac a. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry.
Béliard S, Boccara F, Cariou B, Carrié A, Collet X, Farnier M, Ferrières J, Krempf M, Peretti N, Rabès JP, Varret M, Vimont A, Charrière S, Bruckert E; French FH Registry group. Béliard S, et al. Atherosclerosis. 2018 Oct;277:334-340. doi: 10.1016/j.atherosclerosis.2018.08.010. Atherosclerosis. 2018. PMID: 30270068
Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia.
Ferrières J, Farnier M, Bruckert E, Vimont A, Durlach V, Ferrari E, Gallo A, Boccara F, Ferrières D, Béliard S; French FH Registry group: French REgistry of Familial hypERCHOLesterolemia (REFERCHOL). Ferrières J, et al. Atheroscler Plus. 2022 Aug 17;50:17-24. doi: 10.1016/j.athplu.2022.08.001. eCollection 2022 Dec. Atheroscler Plus. 2022. PMID: 36643794 Free PMC article.
Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.
Peretti N, Vimont A, Mas E, Lemale J, Reynaud R, Tounian P, Poinsot P, Restier L, Paillard F, Pradignac A, Pucheu Y, Rabès JP, Bruckert E, Gallo A, Béliard S. Peretti N, et al. Among authors: pradignac a. Arch Pediatr. 2024 Apr;31(3):188-194. doi: 10.1016/j.arcped.2024.01.004. Epub 2024 Mar 27. Arch Pediatr. 2024. PMID: 38538465 Free article.
Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.
Peretti N, Vimont A, Mas E, Ferrières J, Tounian P, Lemale J, Boccara F, Di Filippo M, Charriere S, Moulin P, Poinsot P, Cottin Y, Ducluzeau PH, Dourmap C, Cariou B, Farnier M, Paillard F, Pradignac A, Yelnik C, Gallo A, Bruckert E, Beliard S; French Registry of Familial Hypercholesterolemia (REFERCHOL) investigators. Peretti N, et al. Among authors: pradignac a. J Pediatr. 2023 Feb;253:18-24.e2. doi: 10.1016/j.jpeds.2022.08.041. Epub 2022 Aug 29. J Pediatr. 2023. PMID: 36049522
Maternal Inheritance of Familial Hypercholesterolemia Gene Mutation Predisposes to Coronary Atherosclerosis as Assessed by Calcium Score in Adulthood.
Mourre F, Giorgi R, Gallo A, Boccara F, Bruckert E, Carrié A, Hankard R, Inamo J, Laboureau S, Moulin P, Valéro R, Béliard S; REFERCHOL Investigators. Mourre F, et al. Arterioscler Thromb Vasc Biol. 2023 Feb;43(2):e94-e103. doi: 10.1161/ATVBAHA.122.318119. Epub 2022 Dec 29. Arterioscler Thromb Vasc Biol. 2023. PMID: 36579650 Free article.
The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.
Gallo A, Pérez de Isla L, Charrière S, Vimont A, Alonso R, Muñiz-Grijalvo O, Díaz-Díaz JL, Zambón D, Moulin P, Bruckert E, Mata P, Béliard S; REFERCHOL and SAFEHEART Investigators. Gallo A, et al. JACC Cardiovasc Imaging. 2021 Dec;14(12):2414-2424. doi: 10.1016/j.jcmg.2021.06.011. Epub 2021 Jul 14. JACC Cardiovasc Imaging. 2021. PMID: 34274263 Free article.
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