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Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Toquet S, et al. Among authors: charriere s. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. doi: 10.1002/jimd.12403. Epub 2021 Jun 7. J Inherit Metab Dis. 2021. PMID: 34014557
[Chronic renal insufficiency and cardiovascular disease].
Charriere S, Rognant N, Chiche F, Cremer A, Deray G, Priou M. Charriere S, et al. Ann Cardiol Angeiol (Paris). 2009 Feb;58(1):40-52. doi: 10.1016/j.ancard.2008.07.010. Epub 2008 Aug 19. Ann Cardiol Angeiol (Paris). 2009. PMID: 18937921 Review. French.
Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Douillard C, Arnoux JB, Bouée S, Jacob C, Schneider KM, Theil J, Charrière S, Maillot F. Douillard C, et al. Among authors: charriere s. Mol Genet Metab. 2023 Nov;140(3):107704. doi: 10.1016/j.ymgme.2023.107704. Epub 2023 Sep 29. Mol Genet Metab. 2023. PMID: 37812967
Silent myocardial infarction fatty scars detected by coronary calcium score CT scan in diabetic patients without history of coronary heart disease.
Boccalini S, Teulade M, Paquet E, Si-Mohamed S, Rapallo F, Moreau-Triby C, Charrière S, Mewton N, Boussel L, Bergerot C, Douek P, Moulin P. Boccalini S, et al. Among authors: charriere s. Eur Radiol. 2024 Jan;34(1):214-225. doi: 10.1007/s00330-023-09940-2. Epub 2023 Aug 2. Eur Radiol. 2024. PMID: 37530810 Free PMC article.
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
Henry Z, Janin A, Nony S, Marmontel O, Cariou B, Marrec M, Caussy C, Charrière S, Moulin P, Rieusset J, Perros F, Di Filippo M. Henry Z, et al. Among authors: charriere s. Clin Chem Lab Med. 2023 Jun 14;61(12):e259-e262. doi: 10.1515/cclm-2023-0330. Print 2023 Nov 27. Clin Chem Lab Med. 2023. PMID: 37309596 No abstract available.
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O, Abou-Khalil Y, Bluteau O, Cariou B, Carreau V, Charrière S, Divry E, Gallo A, Moulin P, Paillard F, Peretti N, Rabès JP, Varret M, Carrié A, Di Filippo M. Marmontel O, et al. Among authors: charriere s. Arterioscler Thromb Vasc Biol. 2023 Jul;43(7):e270-e278. doi: 10.1161/ATVBAHA.123.319146. Epub 2023 Apr 27. Arterioscler Thromb Vasc Biol. 2023. PMID: 37128917
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 X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charrière S, Cornélis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. Vanhoye X, et al. Among authors: charriere s. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15. Transl Res. 2023. PMID: 36528340
Guidance for the diagnosis and treatment of hypolipidemia disorders.
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N. Bredefeld C, et al. Among authors: charriere s. J Clin Lipidol. 2022 Nov-Dec;16(6):797-812. doi: 10.1016/j.jacl.2022.08.009. Epub 2022 Sep 29. J Clin Lipidol. 2022. PMID: 36243606 Free article. Review.
58 results