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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. 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
Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.
Boëlle PY, Viviani L, Busson PF, Olesen HV, Ravilly S, Stern M, Assael BM, Barreto C, Drevinek P, Thomas M, Krivec U, Mei-Zahav M, Vibert JF, Clement A, Mehta A, Corvol H; French CF Modifier Gene Study Investigators; European CF Registry Working Group. Boëlle PY, et al. Orphanet J Rare Dis. 2012 Sep 7;7:64. doi: 10.1186/1750-1172-7-64. Orphanet J Rare Dis. 2012. PMID: 22958330 Free PMC article.
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C. Roussey M, et al. Among authors: moisan petit v. J Inherit Metab Dis. 2007 Aug;30(4):613. doi: 10.1007/s10545-007-0633-8. Epub 2007 Jul 12. J Inherit Metab Dis. 2007. PMID: 17632692
[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].
Sermet-Gaudelus I, Munck A, Rota M, Roussey M, Feldmann D, Nguyen-Khoa T; Groupe de travail "Dépistage néonatal" de la Fédération des centres de ressources et de compétences de la mucoviscidose. Sermet-Gaudelus I, et al. Arch Pediatr. 2010 Sep;17(9):1349-58. doi: 10.1016/j.arcped.2010.06.021. Epub 2010 Aug 16. Arch Pediatr. 2010. PMID: 20719482 French.
Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10-year retrospective study in a French region (Brittany).
Siret D, Bretaudeau G, Branger B, Dabadie A, Dagorne M, David V, de Braekeleer M, Moisan-Petit V, Picherot G, Rault G, Storni V, Roussey M. Siret D, et al. Among authors: moisan petit v. Pediatr Pulmonol. 2003 May;35(5):342-9. doi: 10.1002/ppul.10259. Pediatr Pulmonol. 2003. PMID: 12687590
[Neonatal screening of cystic fibrosis: diagnostic and ethical problems with mild mutations].
Roussey M, Le Bihannic A, Audrezet MP, Blayau M, Dagorne M, Deneuville E, Férec C, Journel H, Moisan-Petit V, Rault G, Scotet V, Storni V, Vigneron P. Roussey M, et al. Among authors: moisan petit v. Arch Pediatr. 2005 Jun;12(6):650-3. doi: 10.1016/j.arcped.2005.04.063. Arch Pediatr. 2005. PMID: 15904758 French. No abstract available.