Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study

Welsh, 2001, Cystic Fibrosis, 5121 Riordan, 1989, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, 245, 1066, 10.1126/science.2475911 Mickle, 2000, Genotype-phenotype relationships in cystic fibrosis, Med Clin North Am, 84, 597, 10.1016/S0025-7125(05)70243-1 Kerem, 1996, Genotype-phenotype correlations in cystic fibrosis, Pediatr Pulmonol, 22, 387, 10.1002/(SICI)1099-0496(199612)22:6<387::AID-PPUL7>3.0.CO;2-G Kerem, 1990, The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (delta F508), N Engl J Med, 323, 1517, 10.1056/NEJM199011293232203 Santis, 1990, Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis, Lancet, 336, 1081, 10.1016/0140-6736(90)92566-Z Johansen, 1991, Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation, Lancet, 337, 631, 10.1016/0140-6736(91)92449-C 1993, Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium, N Engl J Med, 329, 1308, 10.1056/NEJM199310283291804 Kristidis, 1992, Genetic determination of exocrine pancreatic function in cystic fibrosis, Am J Hum Genet, 50, 1178 Highsmith, 1994, A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations, N Engl J Med, 331, 974, 10.1056/NEJM199410133311503 Gan, 1995, A cystic fibrosis mutation associated with mild lung disease, N Engl J Med, 333, 95, 10.1056/NEJM199507133330204 Stern, 1995, 3849+10 kb C→T mutation and disease severity in cystic fibrosis, Lancet, 346, 274, 10.1016/S0140-6736(95)92165-6 Tzetis, 2001, Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene, Hum Genet, 109, 592, 10.1007/s00439-001-0631-0 Kerem, 1996, The molecular basis for disease variability in cystic fibrosis, Eur J Hum Genet, 4, 65, 10.1159/000472174 2000 FitzSimmons, 1993, The changing epidemiology of cystic fibrosis, J Pediatr, 122, 1, 10.1016/S0022-3476(05)83478-X Liou, 2001, Predictive 5-year survivorship model of cystic fibrosis, Am J Epidemiol, 153, 345, 10.1093/aje/153.4.345 Schechter, 2001, The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States, Am J Respir Crit Care Med, 163, 1331, 10.1164/ajrccm.163.6.9912100 Kerem, 1992, Prediction of mortality in patients with cystic fibrosis, N Engl J Med, 326, 1187, 10.1056/NEJM199204303261804 Welsh, 1993, Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis, Cell, 73, 1251, 10.1016/0092-8674(93)90353-R Tsui, 1992, The spectrum of cystic fibrosis mutations, Trends Genet, 8, 392, 10.1016/0168-9525(92)90301-J Koch, 2001, European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations, Pediatr Pulmonol, 31, 1, 10.1002/1099-0496(200101)31:1<1::AID-PPUL1000>3.0.CO;2-T Knudson, 1983, Changes in the normal maximal expiratory flow-volume curve with growth and aging, Am Rev Respir Dis, 127, 725 Highsmith, 1997, Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis, Hum Mutat, 9, 332, 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7 Kiesewetter, 1993, A mutation in CFTR produces different phenotypes depending on chromosomal background, Nat Genet, 5, 274, 10.1038/ng1193-274 Massie, 2001, Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C, Eur Respir J, 17, 1195, 10.1183/09031936.01.00057001 Accurso, 2003, Seeking modifier genes in cystic fibrosis, Am J Respir Crit Care Med, 167, 289, 10.1164/rccm.2210006 Drumm, 2001, Modifier genes and variation in cystic fibrosis, Respir Res, 2, 125, 10.1186/rr47 Hull, 1998, Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis, Thorax, 53, 1018, 10.1136/thx.53.12.1018