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Page 1
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Wintjens R, Bozon D, Belabbas K, MBou F, Girardet JP, Tounian P, Jolly M, Boccara F, Cohen A, Karsenty A, Dubern B, Carel JC, Azar-Kolakez A, Feillet F, Labarthe F, Gorsky AM, Horovitz A, Tamarindi C, Kieffer P, Lienhardt A, Lascols O, Di Filippo M, Dufernez F. Wintjens R, et al. Among authors: lascols o. J Lipid Res. 2016 Mar;57(3):482-91. doi: 10.1194/jlr.P055699. Epub 2016 Jan 22. J Lipid Res. 2016. PMID: 26802169 Free PMC article.
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G, Magno S, Pelosini C, Ferrari F, Sessa MR, Scabia G, Maffei M, Jéru I, Lascols O, Vigouroux C, Santini F. Ceccarini G, et al. Among authors: lascols o. Front Endocrinol (Lausanne). 2020 Feb 14;11:39. doi: 10.3389/fendo.2020.00039. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32117065 Free PMC article.
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
Gautheron J, Lima L, Akinci B, Zammouri J, Auclair M, Ucar SK, Ozen S, Altay C, Bax BE, Nemazanyy I, Lenoir V, Prip-Buus C, Acquaviva-Bourdain C, Lascols O, Fève B, Vigouroux C, Noel E, Jéru I. Gautheron J, et al. Among authors: lascols o. BMC Med. 2022 Mar 28;20(1):95. doi: 10.1186/s12916-022-02296-2. BMC Med. 2022. PMID: 35341481 Free PMC article.
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Jéru I, et al. Among authors: lascols o. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.53. Epub 2016 May 18. Eur J Hum Genet. 2016. PMID: 27189019 Free PMC article. No abstract available.
93 results