• Retour au cours (1) Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. : The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw Hill; 2001. p. 5121-88.
  • Retour au cours (10) Ismailov II, Awayda MS, Jovov B, Berdiev BK, Fuller CM, Dedman JR et al : Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1996;271:4725-32.
  • Retour au cours (11) Schwiebert EM, Egan ME, Hwang TH, Fulmer SB, Allen SS, Cutting GR et al. : CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 1995;81:1063-73.
  • Retour au cours (12) Tsui LC. : Cystic Fibrosis Mutation Database.
  • Retour au cours (13) Bobadilla JL, Macek MJ, Fine JP, Farrell PM. : Cystic fibrosis: a worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
  • Retour au cours (14) : Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167-77.
  • Retour au cours (15) Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y et al. : Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 1992;50:222-8.
  • Retour au cours (16) Férec C, Audrézet MP, Mercier B, Guillermit H, Moullier P, Quéré I et al : Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1:188-91.
  • Retour au cours (17) Welsh MJ, Smith AE. : Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-4.
  • Retour au cours (18) : Cystic Fibrosis Genetic Analysis Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-13.
  • Retour au cours (19) Zielenski J, Tsui LC. : Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995;29:777-807.:777-807.
  • Retour au cours (2) Recommandation : Registre Français de la Mucoviscidose. Rapport 2007
  • Retour au cours (20) Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H et al. : The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (DF508). N Engl J Med 1990;323:1517-22.
  • Retour au cours (21) Férec C, Mercier B, Audrézet MP. : Les mutations de la mucoviscidose : du génotype au phénotype. Médecine/Sciences 1994;10:631-9.
  • Retour au cours (22) Cutting GR. : Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann NY Acad Sci 2010;1214:57-69.
  • Retour au cours (23) Rosenstein BJ, Cutting GR. : The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589-95.
  • Retour au cours (24) Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C et al. : Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343-57.
  • Retour au cours (25) Niel F, Legendre M, Bienvenu T, Bieth E, Lalau G, Sermet I et al. : A new large CFTR rearrangement illustrates the importance of searching for complex alleles. Hum Mutat 2006;27:716-7.
  • Retour au cours (26) Férec C, Casals T, Chuzhanova N, Macek M, Jr., Bienvenu T, Holubova A et al. : Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006;14:567-76.
  • Retour au cours (27) Scotet V, De Braekeleer M, Roussey M, Rault G, Parent P, Dagorne M et al. : Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 2000;356:789-94.
  • Retour au cours (28) Munck A, Sahler C, Briard M, Vidailhet M, Farriaux JP. : [Cystic fibrosis: the French neonatal screening organization, preliminary results]. Arch Pediatr 2005;12:646-9.
  • Retour au cours (29) McIntosh I, Raeburn JA, Curtis A, Brock DJ. : First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing. Lancet 1989;2:972-3.
  • Retour au cours (3) Fanconi G, Uehlinger E, Knauer C. Das : Coeliakiesyndrom bei angeborener zysticher Pankreasfibromatose und Bronchiektasien. Wien Med Wochenschr 1936;86:753-6.
  • Retour au cours (30) Férec C, Verlingue C, Audrézet MP, Guillermit H, Quéré I, Raguenes O et al. : Prenatal diagnosis of cystic fibrosis in different European populations : application of denaturing gradient gel electrophoresis. Fetal Diagn Ther 1993;8:341-50.
  • Retour au cours (31) Scotet V, Duguépéroux I, Audrézet MP, Blayau M, Boisseau P, Journel H et al. : Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France). Prenat Diagn 2008;28:197-202.
  • Retour au cours (32) Handyside AH. : Preimplantation genetic diagnosis after 20 years. Reprod Biomed Online 2010;21:280-2.
  • Retour au cours (33) Simon-Bouy B, Satre V, Férec C, Malinge MC, Girodon E, Denamur E et al. : Hyperechogenic fetal bowel: a large French collaborative study of 682 cases. Am J Med Genet A 2003;121A:209-13.
  • Retour au cours (34) Scotet V, De Braekeleer M, Audrézet MP, Quéré I, Mercier B, Duguépéroux I et al. : Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346,000 pregnancies. J Med Genet 2002;39:443-8.
  • Retour au cours (35) Scotet V, Duguépéroux I, Audrézet MP, Audebert-Bellanger S, Muller M, Blayau M et al. : Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol 2010;203:592-6.
  • Retour au cours (36) Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J et al. : Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990;336:512.
  • Retour au cours (37) Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S et al. : Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
  • Retour au cours (38) Mercier B, Verlingue C, Lissens W, Silber Sherman J, Novelli G, Bonduelle M et al : Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis ? Analyses of the CFTR Gene in 67 Patients. Am J Hum Genet 1995;56:272-7.
  • Retour au cours (39) Bombieri C, Claustres M, De Boeck K, Derish N, Dodge J, Girodon E et al. : Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011;10:86-102.
  • Retour au cours (4) Di Sant'Agnese PA, Darling RC, Perera GA, Shea E. : Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics 1953;12:549-63.
  • Retour au cours (40) Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR et al. : Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N.Engl.J Med. 2010;363:1991-2003.
  • Retour au cours (41) Roussey M, Desrues B, Turck D, Perez T, Wallaert B, : Centres de soins pour la mucoviscidose de Rennes et de Lille. Centres de soins d'adultes pour la mucoviscidose : critères requis, organisation pratique. Rev Mal Respir 2000;17:733-8.
  • Retour au cours (5) Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M et al : Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65.
  • Retour au cours (6) Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z et al. : Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
  • Retour au cours (7) Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A et al. : Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
  • Retour au cours (8) Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Chumm JW et al. : Cystic fibrosis locus defined by a genetically polymorphix DNA marker. Science 1985;230:1054-7.
  • Retour au cours (9) Anderson MP, Gregory RJ, Thompson S, Souza DW, Paul S, Mullingan RC et al. : Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 1991;253:202-4.