-
1
-
-
0035091713
-
Cystic fibrosis
-
1 Robinson, P., Cystic fibrosis. Thorax 56 (2001), 237–241.
-
(2001)
Thorax
, vol.56
, pp. 237-241
-
-
Robinson, P.1
-
2
-
-
77949728437
-
Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis
-
2 McCormick, J., Mehta, G., Olesen, H.V., et al. Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis. Lancet 375 (2010), 1007–1013.
-
(2010)
Lancet
, vol.375
, pp. 1007-1013
-
-
McCormick, J.1
Mehta, G.2
Olesen, H.V.3
-
3
-
-
84890012305
-
Basic research funding by philanthropic organizations: a case in point
-
3 Chignard, M., Ramphal, R., Basic research funding by philanthropic organizations: a case in point. Am J Respir Crit Care Med 188 (2013), 1376–1378.
-
(2013)
Am J Respir Crit Care Med
, vol.188
, pp. 1376-1378
-
-
Chignard, M.1
Ramphal, R.2
-
4
-
-
4644335402
-
Systems biology, proteomics, and the future of health care: toward predictive, preventative, and personalized medicine
-
4 Weston, A.D., Hood, L., Systems biology, proteomics, and the future of health care: toward predictive, preventative, and personalized medicine. J Proteome Res 3 (2004), 179–196.
-
(2004)
J Proteome Res
, vol.3
, pp. 179-196
-
-
Weston, A.D.1
Hood, L.2
-
5
-
-
85027953418
-
Genomics and personalised whole-of-life healthcare
-
5 Bauer, D.C., Gaff, C., Dinger, M.E., et al. Genomics and personalised whole-of-life healthcare. Trends Mol Med 20 (2014), 479–486.
-
(2014)
Trends Mol Med
, vol.20
, pp. 479-486
-
-
Bauer, D.C.1
Gaff, C.2
Dinger, M.E.3
-
6
-
-
0024424270
-
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
-
6 Riordan, J.R., Rommens, J.M., Kerem, B., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989), 1066–1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
-
7
-
-
0024453308
-
Identification of the cystic fibrosis gene: chromosome walking and jumping
-
7 Rommens, J.M., Iannuzzi, M.C., Kerem, B., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245 (1989), 1059–1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
-
8
-
-
0024423668
-
Identification of the cystic fibrosis gene: genetic analysis
-
8 Kerem, B., Rommens, J.M., Buchanan, J.A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245 (1989), 1073–1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
-
9
-
-
84901629144
-
CFTR structure and cystic fibrosis
-
9 Cant, N., Pollock, N., Ford, R.C., CFTR structure and cystic fibrosis. Int J Biochem Cell Biol 52 (2014), 15–25.
-
(2014)
Int J Biochem Cell Biol
, vol.52
, pp. 15-25
-
-
Cant, N.1
Pollock, N.2
Ford, R.C.3
-
10
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
10 Sosnay, P.R., Siklosi, K.R., Van Goor, F., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45 (2013), 1160–1167.
-
(2013)
Nat Genet
, vol.45
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
Van Goor, F.3
-
11
-
-
43549114493
-
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
-
11 Castellani, C., Cuppens, H., Macek, M. Jr., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7 (2008), 179–196.
-
(2008)
J Cyst Fibros
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek, M.3
-
12
-
-
84862026258
-
Genetics and modifier genes, atypical and rare forms
-
12 Ferec, C., Scotet, V., Beucher, J., Corvol, H., Genetics and modifier genes, atypical and rare forms. Arch Pediatr 19:suppl 1 (2012), S3–S7.
-
(2012)
Arch Pediatr
, vol.19
, pp. S3-S7
-
-
Ferec, C.1
Scotet, V.2
Beucher, J.3
Corvol, H.4
-
13
-
-
84901588779
-
Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies
-
13 Fanen, P., Wohlhuter-Haddad, A., Hinzpeter, A., Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. Int J Biochem Cell Biol 52 (2014), 94–102.
-
(2014)
Int J Biochem Cell Biol
, vol.52
, pp. 94-102
-
-
Fanen, P.1
Wohlhuter-Haddad, A.2
Hinzpeter, A.3
-
14
-
-
80054683942
-
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme
-
14 Berwouts, S., Morris, M.A., Girodon, E., Schwarz, M., Stuhrmann, M., Dequeker, E., Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme. Hum Mutat 32 (2011), 1197–1203.
-
(2011)
Hum Mutat
, vol.32
, pp. 1197-1203
-
-
Berwouts, S.1
Morris, M.A.2
Girodon, E.3
Schwarz, M.4
Stuhrmann, M.5
Dequeker, E.6
-
15
-
-
84927176500
-
Cystic fibrosis genetics: from molecular understanding to clinical application
-
15 Cutting, G.R., Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet 16 (2015), 45–56.
-
(2015)
Nat Rev Genet
, vol.16
, pp. 45-56
-
-
Cutting, G.R.1
-
16
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
16 Grody, W.W., Cutting, G.R., Klinger, K.W., et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3 (2001), 149–154.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
-
17
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
17 Watson, M.S., Cutting, G.R., Desnick, R.J., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6 (2004), 387–391.
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
-
18
-
-
4644263276
-
Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
-
18 Palomaki, G.E., Fitzsimmons, S.C., Haddow, J.E., Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 6 (2004), 405–414.
-
(2004)
Genet Med
, vol.6
, pp. 405-414
-
-
Palomaki, G.E.1
Fitzsimmons, S.C.2
Haddow, J.E.3
-
19
-
-
84906089250
-
Cystic fibrosis. Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis
-
19 Hoegger, M.J., Fischer, A.J., McMenimen, J.D., et al. Cystic fibrosis. Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis. Science 345 (2014), 818–822.
-
(2014)
Science
, vol.345
, pp. 818-822
-
-
Hoegger, M.J.1
Fischer, A.J.2
McMenimen, J.D.3
-
20
-
-
84901604063
-
Phagocytic and signaling innate immune receptors: are they dysregulated in cystic fibrosis in the fight against Pseudomonas aeruginosa?
-
20 Sallenave, J.M., Phagocytic and signaling innate immune receptors: are they dysregulated in cystic fibrosis in the fight against Pseudomonas aeruginosa?. Int J Biochem Cell Biol 52 (2014), 103–107.
-
(2014)
Int J Biochem Cell Biol
, vol.52
, pp. 103-107
-
-
Sallenave, J.M.1
-
21
-
-
84859620802
-
Cystic fibrosis: a mucosal immunodeficiency syndrome
-
21 Cohen, T.S., Prince, A., Cystic fibrosis: a mucosal immunodeficiency syndrome. Nat Med 18 (2012), 509–519.
-
(2012)
Nat Med
, vol.18
, pp. 509-519
-
-
Cohen, T.S.1
Prince, A.2
-
22
-
-
77952974496
-
Cystic fibrosis pigs develop lung disease and exhibit defective bacterial eradication at birth
-
22 Stoltz, D.A., Meyerholz, D.K., Pezzulo, A.A., et al. Cystic fibrosis pigs develop lung disease and exhibit defective bacterial eradication at birth. Sci Transl Med, 2, 2010, 29ra31.
-
(2010)
Sci Transl Med
, vol.2
, pp. 29ra31
-
-
Stoltz, D.A.1
Meyerholz, D.K.2
Pezzulo, A.A.3
-
23
-
-
0033031154
-
Clinical presentation of exclusive cystic fibrosis lung disease
-
23 Bronsveld, I., Bijman, J., Mekus, F., Ballmann, M., Veeze, H.J., Tummler, B., Clinical presentation of exclusive cystic fibrosis lung disease. Thorax 54 (1999), 278–281.
-
(1999)
Thorax
, vol.54
, pp. 278-281
-
-
Bronsveld, I.1
Bijman, J.2
Mekus, F.3
Ballmann, M.4
Veeze, H.J.5
Tummler, B.6
-
24
-
-
0035213684
-
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings
-
24 Bronsveld, I., Mekus, F., Bijman, J., et al. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. J Clin Invest 108 (2001), 1705–1715.
-
(2001)
J Clin Invest
, vol.108
, pp. 1705-1715
-
-
Bronsveld, I.1
Mekus, F.2
Bijman, J.3
-
25
-
-
0034234755
-
Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium
-
25 Bronsveld, I., Mekus, F., Bijman, J., et al. Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium. Gastroenterology 119 (2000), 32–40.
-
(2000)
Gastroenterology
, vol.119
, pp. 32-40
-
-
Bronsveld, I.1
Mekus, F.2
Bijman, J.3
-
26
-
-
0034570596
-
Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
-
26 Mekus, F., Ballmann, M., Bronsveld, I., Bijman, J., Veeze, H., Tummler, B., Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 3 (2000), 277–293.
-
(2000)
Twin Res
, vol.3
, pp. 277-293
-
-
Mekus, F.1
Ballmann, M.2
Bronsveld, I.3
Bijman, J.4
Veeze, H.5
Tummler, B.6
-
27
-
-
0031799344
-
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
-
27 Mekus, F., Ballmann, M., Bronsveld, I., et al. Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. Hum Genet 102 (1998), 582–586.
-
(1998)
Hum Genet
, vol.102
, pp. 582-586
-
-
Mekus, F.1
Ballmann, M.2
Bronsveld, I.3
-
28
-
-
0037208909
-
Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs
-
28 Mekus, F., Laabs, U., Veeze, H., Tummler, B., Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet 112 (2003), 1–11.
-
(2003)
Hum Genet
, vol.112
, pp. 1-11
-
-
Mekus, F.1
Laabs, U.2
Veeze, H.3
Tummler, B.4
-
29
-
-
78650404224
-
Modifier genes in Mendelian disorders: the example of cystic fibrosis
-
29 Cutting, G.R., Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 1214 (2010), 57–69.
-
(2010)
Ann N Y Acad Sci
, vol.1214
, pp. 57-69
-
-
Cutting, G.R.1
-
30
-
-
84901593873
-
Lung disease modifier genes in cystic fibrosis
-
30 Guillot, L., Beucher, J., Tabary, O., Le Rouzic, P., Clement, A., Corvol, H., Lung disease modifier genes in cystic fibrosis. Int J Biochem Cell Biol 52 (2014), 83–93.
-
(2014)
Int J Biochem Cell Biol
, vol.52
, pp. 83-93
-
-
Guillot, L.1
Beucher, J.2
Tabary, O.3
Le Rouzic, P.4
Clement, A.5
Corvol, H.6
-
31
-
-
84881489944
-
Genetic influences on cystic fibrosis lung disease severity
-
31 Weiler, C.A., Drumm, M.L., Genetic influences on cystic fibrosis lung disease severity. Front Pharmacol, 4, 2013, 40.
-
(2013)
Front Pharmacol
, vol.4
, pp. 40
-
-
Weiler, C.A.1
Drumm, M.L.2
-
32
-
-
56849132646
-
Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis
-
32 Corvol, H., Boelle, P.Y., Brouard, J., et al. Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis. Pediatr Pulmonol 43 (2008), 1224–1232.
-
(2008)
Pediatr Pulmonol
, vol.43
, pp. 1224-1232
-
-
Corvol, H.1
Boelle, P.Y.2
Brouard, J.3
-
33
-
-
25844491194
-
Genetic modifiers of lung disease in cystic fibrosis
-
33 Drumm, M.L., Konstan, M.W., Schluchter, M.D., et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 353 (2005), 1443–1453.
-
(2005)
N Engl J Med
, vol.353
, pp. 1443-1453
-
-
Drumm, M.L.1
Konstan, M.W.2
Schluchter, M.D.3
-
34
-
-
79551698400
-
Impact of mannose-binding lectin insufficiency on the course of cystic fibrosis: a review and meta-analysis
-
34 Chalmers, J.D., Fleming, G.B., Hill, A.T., Kilpatrick, D.C., Impact of mannose-binding lectin insufficiency on the course of cystic fibrosis: a review and meta-analysis. Glycobiology 21 (2011), 271–282.
-
(2011)
Glycobiology
, vol.21
, pp. 271-282
-
-
Chalmers, J.D.1
Fleming, G.B.2
Hill, A.T.3
Kilpatrick, D.C.4
-
35
-
-
84864464525
-
AGER-429T/C is associated with an increased lung disease severity in cystic fibrosis
-
35 Beucher, J., Boelle, P.Y., Busson, P.F., Muselet-Charlier, C., Clement, A., Corvol, H., AGER-429T/C is associated with an increased lung disease severity in cystic fibrosis. PLoS One, 7, 2012, e41913.
-
(2012)
PLoS One
, vol.7
, pp. e41913
-
-
Beucher, J.1
Boelle, P.Y.2
Busson, P.F.3
Muselet-Charlier, C.4
Clement, A.5
Corvol, H.6
-
36
-
-
84855903891
-
Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients
-
36 Corvol, H., Beucher, J., Boelle, P.Y., et al. Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients. J Cyst Fibros 11 (2012), 63–67.
-
(2012)
J Cyst Fibros
, vol.11
, pp. 63-67
-
-
Corvol, H.1
Beucher, J.2
Boelle, P.Y.3
-
37
-
-
79957588506
-
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
-
37 Wright, F.A., Strug, L.J., Doshi, V.K., et al. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet 43 (2011), 539–546.
-
(2011)
Nat Genet
, vol.43
, pp. 539-546
-
-
Wright, F.A.1
Strug, L.J.2
Doshi, V.K.3
-
38
-
-
84884802285
-
Moving forward: cystic fibrosis gene therapy
-
38 Griesenbach, U., Alton, E.W., Moving forward: cystic fibrosis gene therapy. Hum Mol Genet 22 (2013), R52–R58.
-
(2013)
Hum Mol Genet
, vol.22
, pp. R52-R58
-
-
Griesenbach, U.1
Alton, E.W.2
-
39
-
-
84885869516
-
A randomised, double-blind, placebo-controlled phase IIB clinical trial of repeated application of gene therapy in patients with cystic fibrosis
-
39 Alton, E.W., Boyd, A.C., Cheng, S.H., et al. A randomised, double-blind, placebo-controlled phase IIB clinical trial of repeated application of gene therapy in patients with cystic fibrosis. Thorax 68 (2013), 1075–1077.
-
(2013)
Thorax
, vol.68
, pp. 1075-1077
-
-
Alton, E.W.1
Boyd, A.C.2
Cheng, S.H.3
-
40
-
-
84898778301
-
A guide to genome engineering with programmable nucleases
-
40 Kim, H., Kim, J.S., A guide to genome engineering with programmable nucleases. Nat Rev Genet 15 (2014), 321–334.
-
(2014)
Nat Rev Genet
, vol.15
, pp. 321-334
-
-
Kim, H.1
Kim, J.S.2
-
41
-
-
84904798083
-
CRISPR/Cas9 for genome editing: progress, implications and challenges
-
41 Zhang, F., Wen, Y., Guo, X., CRISPR/Cas9 for genome editing: progress, implications and challenges. Hum Mol Genet 23 (2014), R40–R46.
-
(2014)
Hum Mol Genet
, vol.23
, pp. R40-R46
-
-
Zhang, F.1
Wen, Y.2
Guo, X.3
-
42
-
-
84890033064
-
Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients
-
42 Schwank, G., Koo, B.K., Sasselli, V., et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 13 (2013), 653–658.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 653-658
-
-
Schwank, G.1
Koo, B.K.2
Sasselli, V.3
-
43
-
-
84866067664
-
Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein
-
43 Wong, A.P., Bear, C.E., Chin, S., et al. Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein. Nat Biotechnol 30 (2012), 876–882.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 876-882
-
-
Wong, A.P.1
Bear, C.E.2
Chin, S.3
-
44
-
-
0036379141
-
Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene
-
44 Du, M., Jones, J.R., Lanier, J., et al. Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene. J Mol Med (Berl) 80 (2002), 595–604.
-
(2002)
J Mol Med (Berl)
, vol.80
, pp. 595-604
-
-
Du, M.1
Jones, J.R.2
Lanier, J.3
-
45
-
-
34247200483
-
In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study
-
45 Sermet-Gaudelus, I., Renouil, M., Fajac, A., et al. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med, 5, 2007, 5.
-
(2007)
BMC Med
, vol.5
, pp. 5
-
-
Sermet-Gaudelus, I.1
Renouil, M.2
Fajac, A.3
-
46
-
-
0034961464
-
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
-
46 Clancy, J.P., Bebok, Z., Ruiz, F., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163 (2001), 1683–1692.
-
(2001)
Am J Respir Crit Care Med
, vol.163
, pp. 1683-1692
-
-
Clancy, J.P.1
Bebok, Z.2
Ruiz, F.3
-
47
-
-
0034073736
-
A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
-
47 Wilschanski, M., Famini, C., Blau, H., et al. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 161:3 Pt 1 (2000), 860–865.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, Issue.3
, pp. 860-865
-
-
Wilschanski, M.1
Famini, C.2
Blau, H.3
-
48
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
48 Wilschanski, M., Yahav, Y., Yaacov, Y., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349 (2003), 1433–1441.
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
-
49
-
-
41149111377
-
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
-
49 Du, M., Liu, X., Welch, E.M., Hirawat, S., Peltz, S.W., Bedwell, D.M., PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 105 (2008), 2064–2069.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2064-2069
-
-
Du, M.1
Liu, X.2
Welch, E.M.3
Hirawat, S.4
Peltz, S.W.5
Bedwell, D.M.6
-
50
-
-
33947529670
-
Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
-
50 Hirawat, S., Welch, E.M., Elfring, G.L., et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47 (2007), 430–444.
-
(2007)
J Clin Pharmacol
, vol.47
, pp. 430-444
-
-
Hirawat, S.1
Welch, E.M.2
Elfring, G.L.3
-
51
-
-
50149098401
-
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
-
51 Kerem, E., Hirawat, S., Armoni, S., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372 (2008), 719–727.
-
(2008)
Lancet
, vol.372
, pp. 719-727
-
-
Kerem, E.1
Hirawat, S.2
Armoni, S.3
-
52
-
-
78349290383
-
Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
-
52 Sermet-Gaudelus, I., Boeck, K.D., Casimir, G.J., et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med 182 (2010), 1262–1272.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 1262-1272
-
-
Sermet-Gaudelus, I.1
Boeck, K.D.2
Casimir, G.J.3
-
53
-
-
79960187095
-
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
-
53 Wilschanski, M., Miller, L.L., Shoseyov, D., et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J 38 (2011), 59–69.
-
(2011)
Eur Respir J
, vol.38
, pp. 59-69
-
-
Wilschanski, M.1
Miller, L.L.2
Shoseyov, D.3
-
54
-
-
84904016376
-
Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial
-
54 Kerem, E., Konstan, M.W., De Boeck, K., et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med 2 (2014), 539–547.
-
(2014)
Lancet Respir Med
, vol.2
, pp. 539-547
-
-
Kerem, E.1
Konstan, M.W.2
De Boeck, K.3
-
55
-
-
73249114731
-
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
-
55 Van Goor, F., Hadida, S., Grootenhuis, P.D., et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 106 (2009), 18825–18830.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18825-18830
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.D.3
-
56
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
56 Ramsey, B.W., Davies, J., McElvaney, N.G., et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 365 (2011), 1663–1672.
-
(2011)
N Engl J Med
, vol.365
, pp. 1663-1672
-
-
Ramsey, B.W.1
Davies, J.2
McElvaney, N.G.3
-
57
-
-
84878970875
-
Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation
-
57 Davies, J.C., Wainwright, C.E., Canny, G.J., et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Am J Respir Crit Care Med 187 (2013), 1219–1225.
-
(2013)
Am J Respir Crit Care Med
, vol.187
, pp. 1219-1225
-
-
Davies, J.C.1
Wainwright, C.E.2
Canny, G.J.3
-
58
-
-
84862776940
-
Ivacaftor potentiation of multiple CFTR channels with gating mutations
-
58 Yu, H., Burton, B., Huang, C.J., et al. Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros 11 (2012), 237–245.
-
(2012)
J Cyst Fibros
, vol.11
, pp. 237-245
-
-
Yu, H.1
Burton, B.2
Huang, C.J.3
-
59
-
-
84911493956
-
Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation
-
59 De Boeck, K., Munck, A., Walker, S., et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros 13 (2014), 674–680.
-
(2014)
J Cyst Fibros
, vol.13
, pp. 674-680
-
-
De Boeck, K.1
Munck, A.2
Walker, S.3
-
60
-
-
84937632681
-
Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T
-
60 Carter, S., Kelly, S., Caples, E., et al. Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T. J Cyst Fibros, 2015, 10.1016/j.jcf.2015.01.010.
-
(2015)
J Cyst Fibros
-
-
Carter, S.1
Kelly, S.2
Caples, E.3
-
61
-
-
81755163563
-
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
-
61 Van Goor, F., Hadida, S., Grootenhuis, P.D., et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc Natl Acad Sci U S A 108 (2011), 18843–18848.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 18843-18848
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.D.3
-
62
-
-
84855202429
-
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
-
62 Clancy, J.P., Rowe, S.M., Accurso, F.J., et al. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67 (2012), 12–18.
-
(2012)
Thorax
, vol.67
, pp. 12-18
-
-
Clancy, J.P.1
Rowe, S.M.2
Accurso, F.J.3
-
63
-
-
84904002908
-
A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial
-
63 Boyle, M.P., Bell, S.C., Konstan, M.W., et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2 (2014), 527–538.
-
(2014)
Lancet Respir Med
, vol.2
, pp. 527-538
-
-
Boyle, M.P.1
Bell, S.C.2
Konstan, M.W.3
-
64
-
-
84978719833
-
Effect of lumacaftor in combination with ivacaftor on fev1 and safety measures in patients aged 6-11 years with CF who are homozygous for F508DEL-CFTR
-
64 Rosenfeld, M., Marigowda, G., Liu, F., Waltz, D., Effect of lumacaftor in combination with ivacaftor on fev1 and safety measures in patients aged 6-11 years with CF who are homozygous for F508DEL-CFTR. Pediatr Pulmonol, 49, 2014, 287.
-
(2014)
Pediatr Pulmonol
, vol.49
, pp. 287
-
-
Rosenfeld, M.1
Marigowda, G.2
Liu, F.3
Waltz, D.4
-
65
-
-
84926304680
-
Effect of lumacaftor in combination with ivacaftor in patients with cystic fibrosis who are homozygous for F508DEL-CFTR: the traffic study
-
65 Elborn, J., Wainwright, C.E., Ramsey, B., et al. Effect of lumacaftor in combination with ivacaftor in patients with cystic fibrosis who are homozygous for F508DEL-CFTR: the traffic study. Pediatr Pulmonol 49 (2014), 304–305.
-
(2014)
Pediatr Pulmonol
, vol.49
, pp. 304-305
-
-
Elborn, J.1
Wainwright, C.E.2
Ramsey, B.3
-
66
-
-
84978631327
-
WS7.3 VX-661, an investigational CFTR corrector
-
in combination with ivacaftor, a CFTR potentiator, in patients with CF and homozygous for the F508Del-CFTR mutation: Interim analysis. J Cyst Fibros 12 (suppl 1), S14.
-
66 Donaldson S, Pilewski J, Griese M, Dong Q, Lee PS. WS7.3 VX-661, an investigational CFTR corrector, in combination with ivacaftor, a CFTR potentiator, in patients with CF and homozygous for the F508Del-CFTR mutation: Interim analysis. J Cyst Fibros 12 (suppl 1), 2013, S14.
-
(2013)
-
-
Donaldson, S.1
Pilewski, J.2
Griese, M.3
Dong, Q.4
Lee, P.S.5
-
67
-
-
84901639121
-
Personalised medicine in cystic fibrosis is unaffordable
-
67 Balfour-Lynn, I.M., Personalised medicine in cystic fibrosis is unaffordable. Paediatr Respir Rev 15:suppl 1 (2014), 2–5.
-
(2014)
Paediatr Respir Rev
, vol.15
, pp. 2-5
-
-
Balfour-Lynn, I.M.1
-
68
-
-
84901589330
-
Personalised medicine in cystic fibrosis must be made affordable
-
68 Bilton, D., Personalised medicine in cystic fibrosis must be made affordable. Paediatr Respir Rev 15:suppl 1 (2014), 6–7.
-
(2014)
Paediatr Respir Rev
, vol.15
, pp. 6-7
-
-
Bilton, D.1
-
69
-
-
84919770501
-
Clinical drug-drug interaction assessment of ivacaftor as a potential inhibitor of cytochrome P450 and P-glycoprotein
-
69 Robertson, S.M., Luo, X., Dubey, N., et al. Clinical drug-drug interaction assessment of ivacaftor as a potential inhibitor of cytochrome P450 and P-glycoprotein. J Clin Pharmacol 55 (2015), 56–62.
-
(2015)
J Clin Pharmacol
, vol.55
, pp. 56-62
-
-
Robertson, S.M.1
Luo, X.2
Dubey, N.3
-
70
-
-
0033770638
-
Macrolide—induced clinically relevant drug interactions with cytochrome P-450A (CYP) 3A4: an update focused on clarithromycin, azithromycin and dirithromycin
-
70 Westphal, J.F., Macrolide—induced clinically relevant drug interactions with cytochrome P-450A (CYP) 3A4: an update focused on clarithromycin, azithromycin and dirithromycin. Br J Clin Pharmacol 50 (2000), 285–295.
-
(2000)
Br J Clin Pharmacol
, vol.50
, pp. 285-295
-
-
Westphal, J.F.1
-
71
-
-
84857090385
-
Population pharmacokinetic modelling and design of a Bayesian estimator for therapeutic drug monitoring of tacrolimus in lung transplantation
-
71 Monchaud, C., de Winter, B.C., Knoop, C., et al. Population pharmacokinetic modelling and design of a Bayesian estimator for therapeutic drug monitoring of tacrolimus in lung transplantation. Clin Pharmacokinet 51 (2012), 175–186.
-
(2012)
Clin Pharmacokinet
, vol.51
, pp. 175-186
-
-
Monchaud, C.1
de Winter, B.C.2
Knoop, C.3
|