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First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Among authors: nicolle r. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Vibert R, Hasnaoui J, Perrier A, Lefebvre A, Colas C, Dhooge M, Basset N, Chansavang A, Desseignes C, Duval A, Farelly S, Hamzaoui N, Laurent-Puig P, Metras J, Moliere D, Muleris M, Netter J, Touat M, Bielle F, Labreche K, Nicolle R, Perkins G, Warcoin M, Coulet F, Benusiglio PR. Vibert R, et al. Among authors: nicolle r. Eur J Hum Genet. 2023 Sep;31(9):1078-1082. doi: 10.1038/s41431-023-01367-z. Epub 2023 Apr 24. Eur J Hum Genet. 2023. PMID: 37088804
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D. Bensaid S, et al. Among authors: nicolle r. Am J Med Genet A. 2024 Mar 21:e63580. doi: 10.1002/ajmg.a.63580. Online ahead of print. Am J Med Genet A. 2024. PMID: 38511524
Gene therapy review: Duchenne muscular dystrophy case study.
Berling E, Nicolle R, Laforêt P, Ronzitti G. Berling E, et al. Among authors: nicolle r. Rev Neurol (Paris). 2023 Jan-Feb;179(1-2):90-105. doi: 10.1016/j.neurol.2022.11.005. Epub 2022 Dec 12. Rev Neurol (Paris). 2023. PMID: 36517287 Review.
Role of the fatty pancreatic infiltration in pancreatic oncogenesis.
Frendi S, Martineau C, Cazier H, Nicolle R, Chassac A, Albuquerque M, Raffenne J, Le Faouder J, Paradis V, Cros J, Couvelard A, Rebours V. Frendi S, et al. Among authors: nicolle r. Sci Rep. 2024 Mar 19;14(1):6582. doi: 10.1038/s41598-024-57294-6. Sci Rep. 2024. PMID: 38503902 Free PMC article.
Prospective observational study on biomarkers of response in pancreatic ductal adenocarcinoma.
Jiang L, Qin J, Dai Y, Zhao S, Zhan Q, Cui P, Ren L, Wang X, Zhang R, Gao C, Zhou Y, Cai S, Wang G, Xie W, Tang X, Shi M, Ma F, Liu J, Wang T, Wang C, Svrcek M, Bardier-Dupas A, Emile JF, de Mestier L, Bachet JB, Nicolle R, Cros J, Laurent-Puig P, Wei M, Song B, Jing W, Guo S, Zheng K, Jiang H, Wang H, Deng X, Chen H, Tian Q, Wang S, Shi S, Jin G, Yin T, Fang H, Chen S, Shen B. Jiang L, et al. Among authors: nicolle r. Nat Med. 2024 Mar;30(3):749-761. doi: 10.1038/s41591-023-02790-x. Epub 2024 Jan 29. Nat Med. 2024. PMID: 38287168
Precision medicine for KRAS wild-type pancreatic adenocarcinomas.
Ben-Ammar I, Rousseau A, Nicolle R, Tarabay A, Boige V, Valery M, Pudlarz T, Malka D, Gelli M, Fernandez-De-Sevilla E, Fuerea A, Tanguy ML, Rouleau E, Barbe R, Mathieu JRR, Jaulin F, Smolenschi C, Hollebecque A, Ducreux M, Boileve A. Ben-Ammar I, et al. Among authors: nicolle r. Eur J Cancer. 2024 Jan;197:113497. doi: 10.1016/j.ejca.2023.113497. Epub 2023 Dec 15. Eur J Cancer. 2024. PMID: 38134480
75 results