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Page 1
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: girodon e. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
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.
Putting bicarbonate on the spot: pharmacological insights for CFTR correction in the airway epithelium.
Zajac M, Lepissier A, Dréano E, Chevalier B, Hatton A, Kelly-Aubert M, Guidone D, Planelles G, Edelman A, Girodon E, Hinzpeter A, Crambert G, Pranke I, Galietta LJV, Sermet-Gaudelus I. Zajac M, et al. Among authors: girodon e. Front Pharmacol. 2023 Dec 11;14:1293578. doi: 10.3389/fphar.2023.1293578. eCollection 2023. Front Pharmacol. 2023. PMID: 38149052 Free PMC article.
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: girodon e. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P. Clain J, et al. Among authors: girodon e. Hum Mutat. 2005 Apr;25(4):360-71. doi: 10.1002/humu.20156. Hum Mutat. 2005. PMID: 15776432
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
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kääriäinen H, Kruip S, Morris M, Pignatti PF, Pypops U, Schwarz M, Soller M, Stuhrman M, Cuppens H. Castellani C, et al. Among authors: girodon e. J Cyst Fibros. 2010 May;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005. Epub 2010 Apr 2. J Cyst Fibros. 2010. PMID: 20363197 Free article.
125 results