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Page 1
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: girodon e. Arch Pediatr. 2017 Apr;24(4):401-414. doi: 10.1016/j.arcped.2017.01.019. Epub 2017 Mar 1. Arch Pediatr. 2017. PMID: 28258861 French.
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: girodon e. Arch Pediatr. 2017 Dec;24(12):e1-e14. doi: 10.1016/j.arcped.2017.07.015. Epub 2017 Nov 22. Arch Pediatr. 2017. PMID: 29174009
Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes.
Sermet-Gaudelus I, Déchaux M, Vallée B, Fajac A, Girodon E, Nguyen-Khoa T, Marianovski R, Hurbain I, Bresson JL, Lenoir G, Edelman A. Sermet-Gaudelus I, et al. Among authors: girodon e. Am J Respir Crit Care Med. 2005 May 1;171(9):1026-31. doi: 10.1164/rccm.200406-740OC. Epub 2005 Feb 11. Am J Respir Crit Care Med. 2005. PMID: 15709055
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
Sermet-Gaudelus I, Girodon E, Sands D, Stremmler N, Vavrova V, Deneuville E, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A, Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek M, Roussey M, Fajac I, Edelman A. Sermet-Gaudelus I, et al. Among authors: girodon e. Am J Respir Crit Care Med. 2010 Oct 1;182(7):929-36. doi: 10.1164/rccm.201003-0382OC. Epub 2010 Jun 10. Am J Respir Crit Care Med. 2010. PMID: 20538955
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: girodon e. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M. Bergougnoux A, et al. Among authors: girodon e. J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30. J Cyst Fibros. 2019. PMID: 30389601 Free article.
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A, Audrézet MP, Raynal C, Sermet-Gaudelus I, Bienvenu T, Férec C, Bergougnoux A, Lopez M, Scotet V, Munck A, Girodon E. Boussaroque A, et al. Among authors: girodon e. J Cyst Fibros. 2020 Nov;19(6):949-954. doi: 10.1016/j.jcf.2020.03.019. Epub 2020 Apr 20. J Cyst Fibros. 2020. PMID: 32327388 Free article.
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.
Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T. Raynal C, et al. Among authors: girodon e. Br J Dermatol. 2019 Nov;181(5):1097-1099. doi: 10.1111/bjd.18162. Epub 2019 Aug 19. Br J Dermatol. 2019. PMID: 31310009 No abstract available.
Preface.
Girodon E, Fajac I. Girodon E, et al. Arch Pediatr. 2020 Feb;27 Suppl 1:eS2-eS3. doi: 10.1016/S0929-693X(20)30042-7. Arch Pediatr. 2020. PMID: 32172932 No abstract available.
125 results