-
1
-
-
0036258208
-
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
-
DOI 10.1002/humu.10041
-
Bobadilla JL, Macek Jr M, 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. (Pubitemid 34556480)
-
(2002)
Human Mutation
, vol.19
, Issue.6
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek Jr., M.2
Fine, J.P.3
Farrell, P.M.4
-
2
-
-
0025241696
-
The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (DF508)
-
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: 1517-1522.
-
(1990)
N Engl J Med
, vol.323
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, B.S.3
Rommens, J.4
Markiewicz, D.5
Levison, H.6
-
3
-
-
0026019534
-
Severity of cystic fibrosis in patients homozygous and heterozygous for DF508 mutation
-
Johansen HK, Nir M, Hoiby N, Koch C, Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for DF508 mutation. Lancet 1991; 337: 631-634.
-
(1991)
Lancet
, vol.337
, pp. 631-634
-
-
Johansen, H.K.1
Nir, M.2
Hoiby, N.3
Koch, C.4
Schwartz, M.5
-
4
-
-
0026783823
-
Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations
-
Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992; 102: 506-509.
-
(1992)
Chest
, vol.102
, pp. 506-509
-
-
Burke, W.1
Aitken, M.L.2
Chen, S.H.3
Scott, C.R.4
-
5
-
-
0025011995
-
Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
-
DOI 10.1016/0140-6736(90)92566-Z
-
Santis G, Osborne L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 1990; 336: 1081-1084. (Pubitemid 20368740)
-
(1990)
Lancet
, vol.336
, Issue.8723
, pp. 1081-1084
-
-
Santis, G.1
Osborne, L.2
Knight, R.A.3
Hodson, M.E.4
-
6
-
-
0034570596
-
Categories of δF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
-
DOI 10.1375/136905200320565256
-
Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tummler B. Categories of DF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 2000; 3: 277-293. (Pubitemid 32126931)
-
(2000)
Twin Research
, vol.3
, Issue.4
, pp. 277-293
-
-
Mekus, F.1
Ballmann, M.2
Bronsveld, I.3
Bijman, J.4
Veeze, H.5
Tummler, B.6
-
7
-
-
34248346723
-
Heritability of lung disease severity in cystic fibrosis
-
DOI 10.1164/rccm.200608-1164OC
-
Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K et al. Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 2007; 175: 1036-1043. (Pubitemid 46741755)
-
(2007)
American Journal of Respiratory and Critical Care Medicine
, vol.175
, Issue.10
, pp. 1036-1043
-
-
Vanscoy, L.L.1
Blackman, S.M.2
Collaco, J.M.3
Bowers, A.4
Lai, T.5
Naughton, K.6
Algire, M.7
McWilliams, R.8
Beck, S.9
Hoover-Fong, J.10
Hamosh, A.11
Cutler, D.12
Cutting, G.R.13
-
8
-
-
25844491194
-
Genetic modifiers of lung disease in cystic fibrosis
-
DOI 10.1056/NEJMoa051469
-
Drumm ML, KonstanMW, Schluchter MD, Handler A, Pace R, Zou F et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005; 353: 1443-1453. (Pubitemid 41400918)
-
(2005)
New England Journal of Medicine
, vol.353
, Issue.14
, pp. 1443-1453
-
-
Drumm, M.L.1
Konstan, M.W.2
Schluchter, M.D.3
Handler, A.4
Pace, R.5
Zou, F.6
Zariwala, M.7
Fargo, D.8
Xu, A.9
Dunn, J.M.10
Darrah, R.J.11
Dorfman, R.12
Sandford, A.J.13
Corey, M.14
Zielenski, J.15
Durie, P.16
Goddard, K.17
Yankaskas, J.R.18
Wright, F.A.19
Knowles, M.R.20
more..
-
9
-
-
40549083327
-
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
-
DOI 10.1172/JCI33754
-
Dorfman R, Sandford A, Taylor C, Huang B, Frangolias D, Wang Y et al. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest 2008; 118: 1040-1049. (Pubitemid 351364611)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.3
, pp. 1040-1049
-
-
Dorfman, R.1
Sandford, A.2
Taylor, C.3
Huang, B.4
Frangolias, D.5
Wang, Y.6
Sang, R.7
Pereira, L.8
Sun, L.9
Berthiaume, Y.10
Tsui, L.-C.11
Pare, P.D.12
Durie, P.13
Corey, M.14
Zielenski, J.15
-
10
-
-
51249089910
-
Modulation of cystic fibrosis lung disease by variants in interleukin-8
-
Hillian AD, Londono D, Dunn JM, Goddard KA, Pace RG, Knowles MR et al. Modulation of cystic fibrosis lung disease by variants in interleukin-8. Genes Immun 2008; 9: 501-508.
-
(2008)
Genes Immun
, vol.9
, pp. 501-508
-
-
Hillian, A.D.1
Londono, D.2
Dunn, J.M.3
Goddard, K.A.4
Pace, R.G.5
Knowles, M.R.6
-
11
-
-
59249089989
-
Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity
-
Taylor-Cousar JL, Zariwala MA, Burch LH, Pace RG, Drumm ML, Calloway H et al. Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. PLoS One 2009; 4: e4270.
-
(2009)
PLoS One
, vol.4
-
-
Taylor-Cousar, J.L.1
Zariwala, M.A.2
Burch, L.H.3
Pace, R.G.4
Drumm, M.L.5
Calloway, H.6
-
12
-
-
67349211438
-
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
-
Gu Y, Harley IT, Henderson LB, Aronow BJ, Vietor I, Huber LA et al. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature 2009; 458: 1039-1042.
-
(2009)
Nature
, vol.458
, pp. 1039-1042
-
-
Gu, Y.1
Harley, I.T.2
Henderson, L.B.3
Aronow, B.J.4
Vietor, I.5
Huber, L.A.6
-
13
-
-
0017372054
-
Pseudomonas aeruginosa infection in cystic fibrosis. Diagnostic and prognostic significance of Pseudomonas aeruginosa precipitins determined by means of crossed immunoelectrophoresis
-
Hoiby N, Flensborg EW, Beck B, Friis B, Jacobsen SV, Jacobsen L. Pseudomonas aeruginosa infection in cystic fibrosis. Diagnostic and prognostic significance of Pseudomonas aeruginosa precipitins determined by means of crossed immunoelectrophoresis. Scand J Respir Dis 1977; 58: 65-79.
-
(1977)
Scand J Respir Dis
, vol.58
, pp. 65-79
-
-
Hoiby, N.1
Flensborg, E.W.2
Beck, B.3
Friis, B.4
Jacobsen, S.V.5
Jacobsen, L.6
-
16
-
-
2142761564
-
The Alternative Activation Pathway and Complement Component C3 Are Critical for a Protective Immune Response against Pseudomonas aeruginosa in a Murine Model of Pneumonia
-
DOI 10.1128/IAI.72.5.2899-2906.2004
-
Mueller-Ortiz SL, Drouin SM, Wetsel RA. The alternative activation pathway and complement component C3 are critical for a protective immune response against Pseudomonas aeruginosa in a murine model of pneumonia. Infect Immun 2004; 72: 2899-2906. (Pubitemid 38542420)
-
(2004)
Infection and Immunity
, vol.72
, Issue.5
, pp. 2899-2906
-
-
Mueller-Ortiz, S.L.1
Drouin, S.M.2
Wetsel, R.A.3
-
17
-
-
4444351480
-
Heme oxygenase-1 expression in human lungs with cystic fibrosis and cytoprotective effects against Pseudomonas aeruginosa in vitro
-
DOI 10.1164/rccm.200311-1607OC
-
Zhou H, Lu F, Latham C, Zander DS, Visner GA. Heme oxygenase-1 expression in human lungs with cystic fibrosis and cytoprotective effects against Pseudomonas aeruginosa in vitro. Am J Respir Crit Care Med 2004; 170: 633-640. (Pubitemid 39202205)
-
(2004)
American Journal of Respiratory and Critical Care Medicine
, vol.170
, Issue.6
, pp. 633-640
-
-
Zhou, H.1
Lu, F.2
Latham, C.3
Zander, D.S.4
Visner, G.A.5
-
18
-
-
1842539516
-
A simple correction for multiple testing for singlenucleotide polymorphisms in linkage disequilibrium with each other
-
DOI 10.1086/383251
-
Nyholt DR. A simple correction for multiple testing for singlenucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004; 74: 765-769. (Pubitemid 38420107)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.4
, pp. 765-769
-
-
Nyholt, D.R.1
-
19
-
-
0346373654
-
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium
-
DOI 10.1086/381000
-
Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74: 106-120. (Pubitemid 38085242)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.1
, pp. 106-120
-
-
Carlson, C.S.1
Eberle, M.A.2
Rieder, M.J.3
Yi, Q.4
Kruglyak, L.5
Nickerson, D.A.6
-
20
-
-
0035055544
-
The family based association test method: Strategies for studying general genotype-phenotype associations
-
DOI 10.1038/sj.ejhg.5200625
-
Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001; 9: 301-306. (Pubitemid 32366699)
-
(2001)
European Journal of Human Genetics
, vol.9
, Issue.4
, pp. 301-306
-
-
Horvath, S.1
Xu, X.2
Laird, N.M.3
-
21
-
-
0027551290
-
Pulmonary function between 6 and 18 years of age
-
Wang X, Dockery DW, Wypij D, Fay ME, Ferris Jr BG. Pulmonary function between 6 and 18 years of age. Pediatr Pulmonol 1993; 15: 75-88.
-
(1993)
Pediatr Pulmonol
, vol.15
, pp. 75-88
-
-
Wang, X.1
Dockery, D.W.2
Wypij, D.3
Fay, M.E.4
Ferris Jr., B.G.5
|