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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: nony 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.
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: nony s. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
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: nony s. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
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: nony s. Atherosclerosis. 2020 Dec;314:63-70. doi: 10.1016/j.atherosclerosis.2020.10.010. Epub 2020 Oct 10. Atherosclerosis. 2020. PMID: 33186855
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: nony s. Atherosclerosis. 2019 May;284:75-82. doi: 10.1016/j.atherosclerosis.2019.02.016. Epub 2019 Mar 3. Atherosclerosis. 2019. PMID: 30875496
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Lunati-Rozie A, Janin A, Faubert E, Nony S, Renoux C, Carcao MD, Fanen P, Funalot B, Mansour-Hendili L, Joly P. Lunati-Rozie A, et al. Among authors: nony s. Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16. Br J Haematol. 2023. PMID: 36928866 No abstract available.
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