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The U UGA C sequence provides a favorable context to ELX-02 induced CFTR readthrough.
Pranke IM, Varilh J, Hatton A, Faucon C, Girodon E, Dreano E, Chevalier B, Karri S, Reix P, Durieu I, Bidou L, Namy O, Taulan M, Hinzpeter A, Sermet-Gaudelus I. Pranke IM, et al. Among authors: girodon e. J Cyst Fibros. 2023 May;22(3):560-563. doi: 10.1016/j.jcf.2022.10.010. Epub 2022 Nov 16. J Cyst Fibros. 2023. PMID: 36400713 No abstract available.
The French Compassionate Program of elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Burgel PR, Sermet-Gaudelus I, Durieu I, Kanaan R, Macey J, Grenet D, Porzio M, Coolen-Allou N, Chiron R, Marguet C, Douvry B, Dufeu N, Danner-Boucher I, Foucaud P, Lemonnier L, Girodon E, Da Silva J, Martin C; French CF Reference Network study group. Burgel PR, et al. Among authors: girodon e. Eur Respir J. 2023 Feb 16:2202437. doi: 10.1183/13993003.02437-2022. Online ahead of print. Eur Respir J. 2023. PMID: 36796836
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
Deffert C, Niel F, Mochel F, Barrey C, Romana C, Souied E, Stoetzel C, Goossens M, Dollfus H, Verloes A, Girodon E, Gerard-Blanluet M. Deffert C, et al. Among authors: girodon e. Am J Med Genet A. 2007 Jan 15;143A(2):208-13. doi: 10.1002/ajmg.a.31585. Am J Med Genet A. 2007. PMID: 17163542 No abstract available.
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Ratbi I, et al. Among authors: girodon e. Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28. Hum Reprod. 2007. PMID: 17329263
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H. Azad AK, et al. Among authors: girodon e. Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011. Hum Mutat. 2009. PMID: 19462466
125 results