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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E. Sperelakis-Beedham B, et al. Among authors: bienvenu t. J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24. J Eur Acad Dermatol Venereol. 2023. PMID: 36645858 No abstract available.
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: bienvenu t. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
Hubert D, Fajac I, Bienvenu T, Desmazes-Dufeu N, Ellaffi M, Dall'ava-Santucci J, Dusser D. Hubert D, et al. Among authors: bienvenu t. J Cyst Fibros. 2004 Mar;3(1):15-22. doi: 10.1016/j.jcf.2003.12.004. J Cyst Fibros. 2004. PMID: 15463882 Free article.
ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
Viel M, Leroy C, Hubert D, Fajac I, Bienvenu T. Viel M, et al. Among authors: bienvenu t. J Cyst Fibros. 2008 Jan;7(1):23-9. doi: 10.1016/j.jcf.2007.04.003. Epub 2007 Jun 7. J Cyst Fibros. 2008. PMID: 17560176 Free article.
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: bienvenu t. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
310 results