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PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420G.
Decourt C, Janin A, Moindrot M, Chatron N, Nony S, Muntaner M, Dumont S, Divry E, Dauchet L, Meirhaeghe A, Marmontel O, Bardel C, Charrière S, Cariou B, Moulin P, Di Filippo M. Decourt C, et al. Among authors: dumont s. Atherosclerosis. 2020 Dec;314:63-70. doi: 10.1016/j.atherosclerosis.2020.10.010. Epub 2020 Oct 10. Atherosclerosis. 2020. PMID: 33186855
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: dumont s. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
Di Filippo M, Varret M, Boehm V, Rabès JP, Ferkdadji L, Abramowitz L, Dumont S, Lenaerts C, Boileau C, Joly F, Schmitz J, Samson-Bouma ME, Bonnefont-Rousselot D. Di Filippo M, et al. Among authors: dumont s. J Clin Lipidol. 2019 Jan-Feb;13(1):201-212. doi: 10.1016/j.jacl.2018.10.003. Epub 2018 Oct 24. J Clin Lipidol. 2019. PMID: 30522860
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N. Di Filippo M, et al. Among authors: dumont s. Atherosclerosis. 2019 May;284:75-82. doi: 10.1016/j.atherosclerosis.2019.02.016. Epub 2019 Mar 3. Atherosclerosis. 2019. PMID: 30875496
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: dumont s. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
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: dumont 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
Real life data of ONC201 (dordaviprone) in pediatric and adult H3K27-altered recurrent diffuse midline glioma: Results of an international academia-driven compassionate use program.
Di Carlo D, Annereau M, Vignes M, Denis L, Epaillard N, Dumont S, Guyon D, Rieutord A, Jacobs S, Salomon V, Yoldjian I, Duperray F, Brunel L, Baiao X, Lemos F, Vauleon E, Capra M, Abbou S, Touat M, Sanson M, Gandemer V, De Carli E, Bourdeaut F, Hezam I, Vassal G, Grill J. Di Carlo D, et al. Among authors: dumont s. Eur J Cancer. 2024 Dec 11;216:115165. doi: 10.1016/j.ejca.2024.115165. Online ahead of print. Eur J Cancer. 2024. PMID: 39700833 Free article.
342 results