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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: couloigner v. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children.
Avettand-Fenoël V, Marlin S, Vauloup-Fellous C, Loundon N, François M, Couloigner V, Rouillon I, Drouin-Garraud V, Laccourreye L, Denoyelle F, Guilleminot T, Grabar S, Leruez-Ville M. Avettand-Fenoël V, et al. Among authors: couloigner v. J Pediatr. 2013 Mar;162(3):593-9. doi: 10.1016/j.jpeds.2012.08.009. Epub 2012 Sep 26. J Pediatr. 2013. PMID: 23022111
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. Among authors: couloigner v. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315542
Pycnodysostosis presenting as atypical stridor.
Manfredi L, Marlin S, Fauroux B, Garabedian N, Couloigner V, Leboulanger N. Manfredi L, et al. Among authors: couloigner v. Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Apr;133(2):87-90. doi: 10.1016/j.anorl.2015.06.005. Epub 2016 Feb 5. Eur Ann Otorhinolaryngol Head Neck Dis. 2016. PMID: 26856677 Free article. Review.
178 results