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Page 1
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.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: girodon e. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
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.
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Burgel PR, Sermet-Gaudelus I, Girodon E, Kanaan R, Le Bihan J, Remus N, Ravoninjatovo B, Grenet D, Porzio M, Houdouin V, Le Clainche-Viala L, Durieu I, Nove-Josserand R, Languepin J, Coltey B, Guillaumot A, Audousset C, Chiron R, Weiss L, Fajac I, Da Silva J, Martin C; French CF Reference Network study group. Burgel PR, et al. Among authors: girodon e. Eur Respir J. 2024 Jan 25;63(1):2301959. doi: 10.1183/13993003.01959-2023. Print 2024 Jan. Eur Respir J. 2024. PMID: 38242629 No abstract available.
The French compassionate programme 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; Andrejak C, Priou P, Richaud-Thiriez B, Macey J, Montcouquiol S, Douvry B, Remus N, Fanton A, Coolen-Allou N, Gachelin E, Vuillard C, Audousset C, Duthoit L, Bellet-Fraysse E, Languepin J, Durieu I, Nove-Josserand R, Ohlmann C, Raynaud Q, Dufeu N, Chiron R, Billon Y, Danner-Boucher I, Tissot A, Leroy S, Aubourg F, Burnet E, Burgel PR, Carlier N, Da Silva J, Fajac I, Girodon E, Kanaan R, Honoré I, Martin C, Le Bourgeois M, Sermet-Gaudelus I, Le Clainche-Viala L, Corvol H, Dehillotte C, Foucaud P, Lemonnier L, Brinchault G, Ravoninjatovo B, Le Bihan J, Ramel S, Marguet C, Porzio M, Weiss L, Grenet D, de Miranda S, Cosson L, Mankikian J, Pouradier D. Burgel PR, et al. Among authors: girodon e. Eur Respir J. 2023 May 5;61(5):2202437. doi: 10.1183/13993003.02437-2022. Print 2023 May. Eur Respir J. 2023. PMID: 36796836 Free 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
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
René C, Paulet D, Girodon E, Costa C, Lalau G, Leclerc J, Cabet-Bey F, Bienvenu T, Blayau M, Iron A, Mittre H, Feldmann D, Guittard C, Claustres M, Georges Md. René C, et al. Among authors: girodon e. Eur J Hum Genet. 2011 Jan;19(1):36-42. doi: 10.1038/ejhg.2010.137. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717170 Free PMC 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: girodon e. 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.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: girodon e. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
125 results