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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
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: girodon e. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.
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
Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F. Cabrol C, et al. Among authors: girodon e. Acta Derm Venereol. 2016 Aug 23;96(6):848-9. doi: 10.2340/00015555-2424. Acta Derm Venereol. 2016. PMID: 27026144 Free article. No abstract available.
124 results