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Page 1
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: chatron n. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
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: chatron n. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium. El Khattabi LA, et al. Among authors: chatron n. Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. doi: 10.1002/uog.20112. Ultrasound Obstet Gynecol. 2019. PMID: 30191619 Free article.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V. Hureaux M, et al. Among authors: chatron n. Prenat Diagn. 2019 Oct;39(11):1026-1034. doi: 10.1002/pd.5523. Epub 2019 Aug 9. Prenat Diagn. 2019. PMID: 31299102
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Pons L, Bouvagnet P, Bakloul M, Di Filippo S, Buisson A, Chatron N, Labalme A, Metton O, Mitchell J, Diguet F, Rollat-Farnier PA, Sanlaville D, Schluth-Bolard C. Pons L, et al. Among authors: chatron n. Mol Syndromol. 2019 Jul;10(4):209-213. doi: 10.1159/000500215. Epub 2019 May 21. Mol Syndromol. 2019. PMID: 31602193 Free PMC article.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: chatron n. Am J Hum Genet. 2021 Jun 3;108(6):1161-1163. doi: 10.1016/j.ajhg.2021.04.022. Am J Hum Genet. 2021. PMID: 34087165 Free PMC article. No abstract available.
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: chatron n. Atherosclerosis. 2020 Dec;314:63-70. doi: 10.1016/j.atherosclerosis.2020.10.010. Epub 2020 Oct 10. Atherosclerosis. 2020. PMID: 33186855
120 results