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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. 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
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. 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
[Recommendations for the management of bone demineralization in cystic fibrosis].
Sermet-Gaudelus I, Nove-Josserand R, Loeille GA, Dacremont G, Souberbielle JC, Fritsch J, Laurans M, Moulin P, Cortet B, Salles JP, Ginies JL, Guillot M, Perez-Martin S, Ruiz JC, Montagne V, Cohen-Solal M, Cormier C, Garabédian M, Mallet E; Fédération française des centres de ressource et de compétence en mucoviscidose. Sermet-Gaudelus I, et al. Arch Pediatr. 2008 Mar;15(3):301-12. doi: 10.1016/j.arcped.2007.12.003. Epub 2008 Mar 5. Arch Pediatr. 2008. PMID: 18325750 French.
252 results