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Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.
Nguyen-Khoa T, Hatton A, Drummond D, Aoust L, Schlatter J, Martin C, Ramel S, Kiefer S, Gachelin E, Stremler N, Cosson L, Gabsi A, Remus N, Benhamida M, Hadchouel A, Fajac I, Munck A, Girodon E, Sermet-Gaudelus I. Nguyen-Khoa T, et al. Among authors: girodon e. Eur Respir J. 2022 Aug 4;60(2):2200209. doi: 10.1183/13993003.00209-2022. Print 2022 Aug. Eur Respir J. 2022. PMID: 35777769 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.
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
Nasal potential difference in cystic fibrosis diagnosis of very young children.
Sermet-Gaudelus I, Girodon E, Huet F, Aboutaam R, Bui S, Deneuville E, Guillot M, Vrielynck S, Lenoir G, Edelman A. Sermet-Gaudelus I, et al. Among authors: girodon e. J Pediatr. 2007 Mar;150(3):e34-5. doi: 10.1016/j.jpeds.2006.11.055. J Pediatr. 2007. PMID: 17307527 No abstract available.
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A. Sermet-Gaudelus I, et al. Among authors: girodon e. Thorax. 2010 Jun;65(6):539-44. doi: 10.1136/thx.2009.123422. Thorax. 2010. PMID: 20522854
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
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I, Bidou L, Martin N, Blanchet S, Hatton A, Karri S, Cornu D, Costes B, Chevalier B, Tondelier D, Girodon E, Coupet M, Edelman A, Fanen P, Namy O, Sermet-Gaudelus I, Hinzpeter A. Pranke I, et al. Among authors: girodon e. ERJ Open Res. 2018 Feb 23;4(1):00080-2017. doi: 10.1183/23120541.00080-2017. eCollection 2018 Jan. ERJ Open Res. 2018. PMID: 29497617 Free PMC article.
124 results