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Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia 最小基因剪接报告者分析：一种在家族性低β脂蛋白血症遗传诊断中的高风险工具 Henry, Zoe; Janin, Alexandre; Nony, Severine; Marmontel, Oriane; Charriere, Sybil; Moulin, Philippe; Marrec, Marie; Wargny, Matthieu; Cariou, Bertrand; Di Filippo, Mathilde 分享 收藏
Cascade screening in familial hypercholesterolaemia is associated with earlier statin initiation and fewer cardiovascular events than opportunistic screening 在家族性高胆固醇血症中，级联筛查与更早的他汀类药物启动及更少的心血管事件相关，而非机会性筛查。 Mourre, Florian; Giorgi, Roch; Cattieuw, Lauranne; Gallo, Antonio; Moulin, Philippe; Charriere, Sybil; Aouchiche, Karine; Rigalleau, Vincent; Schiele, Francois; Sultan, Ariane; Tounian, Patrick; Valero, Rene; Beliard, Sophie 分享 收藏
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Telomere shortening and cardiac alterations in asymptomatic type 2 diabetes patients: impact of sex Balfanz, P.; Riccardi, B.; El Mernissi, K.; Zhang, Y.; Alassaad, L.; Thibault, H.; Moulin, P.; Bergerot, C.; Audureau, E.; Derumeaux, G. 分享 收藏
Comparison of Screening Pathways of Advanced Fibrosis Due to MASLD in Diabetology Caussy, Cyrielle; Verges, Bruno; Leleu, Damien; Duvillard, Laurence; Abichou-Klich, Amna; Segrestin, Berenice; Bin, Sylvie; Rouland, Alexia; Delaunay, Dominique; Hadjadj, Samy; Primot, Claire; Petit, Jean-Michel; Charriere, Sybil; Moulin, Philippe; Levrero, Massimo; Cariou, Bertrand; Disse, Emmanuel 分享 收藏
Screening for MASLD Using a Novel Point-of-Care Device, the Hepatoscope, in Diabetology Caussy, Cyrielle; Verges, Bruno; Segrestin, Berenice; Rouland, Alexia; Petit, Jean-Michel; Delaunay, Dominique; Charriere, Sybil; Moulin, Philippe; Disse, Emmanuel 分享 收藏
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Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS) Bashir, Bilal; Kwok, See; Wierzbicki, Anthony S.; Jones, Alan; Dawson, Charlotte; Downie, Paul; Jenkinson, Fiona; Delaney, Hannah; Mansfield, Michael; Datta, Dev; Teoh, Yee; Hamilton, Paul; Forrester, Natalie; 'Sullivan, Dawn; Ferdousi, Maryam; Durrington, Paul N.; Abdelrazik, Alaa; Gallo, Antonio; Moulin, Philippe; Soran, Handrean 分享 收藏
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Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia Marmontel, Oriane; Abou-Khalil, Yara; Bluteau, Olivier; Cariou, Bertrand; Carreau, Valerie; Charriere, Sybil; Divry, Eleonore; Gallo, Antonio; Moulin, Philippe; Paillard, Francois; Peretti, Noel; Rabes, Jean-Pierre; Varret, Mathilde; Carrie, Alain; Di Filippo, Mathilde 分享 收藏
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T Henry, Zoe; Janin, Alexandre; Nony, Severine; Marmontel, Oriane; Cariou, Bertrand; Marrec, Marie; Caussy, Cyrielle; Charriere, Sybil; Moulin, Philippe; Rieusset, Jennifer; Perros, Frederic; Di Filippo, Mathilde 分享 收藏
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia Vanhoye, Xavier; Bardel, Claire; Rimbert, Antoine; Moulin, Philippe; Rollat-Farnier, Pierre-Antoine; Muntaner, Manon; Marmontel, Oriane; Dumont, Sabrina; Charriere, Sybil; Cornelis, Francois; Ducluzeau, Pierre Henri; Fonteille, Annie; Nobecourt, Estelle; Peretti, Noel; Schillo, Franck; Wargny, Matthieu; Cariou, Bertrand; Meirhaeghe, Aline; Di Filippo, Mathilde 分享 收藏
Maternal Inheritance of Familial Hypercholesterolemia Gene Mutation Predisposes to Coronary Atherosclerosis as Assessed by Calcium Score in Adulthood Mourre, Florian; Giorgi, Roch; Gallo, Antonio; Boccara, Franck; Bruckert, Eric; Carrie, Alain; Hankard, Regis; Inamo, Jocelyn; Laboureau, Sandrine; Moulin, Philippe; Valero, Rene; Beliard, Sophie 分享 收藏
A meal rich in palm oil or butter modifies the sphingolipid profile of postprandial triglyceride-rich lipoproteins from type 2 diabetic women Boulet, Marie Michele; Calzada, Catherine; Pettazzoni, Magali; Lelekov-Boissard, Taissia; Buisson, Charline; Di Filippo, Mathilde; Durand, Annie; Lambert-Porcheron, Stephanie; Nazare, Julie-Anne; Moulin, Philippe; Michalski, Marie-Caroline; Cheillan, David 分享 收藏
Guidance for the diagnosis and treatment of hypolipidemia disorders Bredefeld, Cindy; Hussain, M. Mahmood; Averna, Maurizio; Black, Dennis D.; Brin, Mitchell F.; Burnett, John R.; Charriere, Sybil; Cuerq, Charlotte; Davidson, Nicholas O.; Deckelbaum, Richard J.; Goldberg, Ira J.; Granot, Esther; Hegele, Robert A.; Ishibashi, Shun; Karmally, Wahida; Levy, Emile; Moulin, Philippe; Okazaki, Hiroaki; Poinsot, Pierre; Rader, Daniel J.; Takahashi, Manabu; Tarugi, Patrizia; Traber, Maret G.; Di Filippo, Mathilde; Peretti, Noel 分享 收藏
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia Dijk, Wieneke; Di Filippo, Mathilde; Kooijman, Sander; van Eenige, Robin; Rimbert, Antoine; Caillaud, Amandine; Thedrez, Aurelie; Arnaud, Lucie; Pronk, Amanda; Garcon, Damien; Sotin, Thibaud; Lindenbaum, Pierre; Garcia, Enrique Ozcariz; De Barros, Jean-Paul Pais; Duvillard, Laurence; Si-Tayeb, Karim; Amigo, Nuria; Le Questel, Jean-Yves; Rensen, Patrick C. N.; Le May, Cedric; Moulin, Philippe; Cariou, Bertrand 分享 收藏
SGLT2 inhibitors in type 2 diabetes: a systematic review and meta-analysis of cardiovascular outcome trials balancing their risks and benefits Marilly, Elisa; Cottin, Judith; Cabrera, Natalia; Cornu, Catherine; Boussageon, Remy; Moulin, Philippe; Lega, Jean-Christophe; Gueyffier, Francois; Cucherat, Michel; Grenet, Guillaume 分享 收藏
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