-
2
-
-
0036258208
-
Cystic fibrosis: A world-wide analysis for CFTR mutations - Correlation with incidence data and application to screening
-
J.L. Bobadilla M. Macek Jr. J.P. Fine P.M. Farrell Cystic fibrosis: A world-wide analysis for CFTR mutations - correlation with incidence data and application to screening Hum Mutat 19 2002 575-606
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek Jr., M.2
Fine, J.P.3
Farrell, P.M.4
-
3
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
Cystic Fibrosis Genotype-Phenotype Consortium
-
Cystic Fibrosis Genotype-Phenotype Consortium Correlation between genotype and phenotype in patients with cystic fibrosis N Engl J Med 3 1993 1308-1313
-
(1993)
N Engl J Med
, vol.3
, pp. 1308-1313
-
-
-
4
-
-
0029616734
-
Cystic fibrosis genotypic and phenotypic variations
-
J. Zielenski L.C. Tsui Cystic fibrosis genotypic and phenotypic variations Annu Rev Genet 29 1995 777-807
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
5
-
-
31344453577
-
-
Cystic Fibrosis Genetic Analysis Consortium
-
Cystic Fibrosis Genetic Analysis Consortium: http://www.genet.sickkids.on.ca/cftr.
-
-
-
-
6
-
-
0027409808
-
Genetic determinants of airways' colonization with Pseudomonas aeruginosa in cystic fibrosis
-
P. Kubesch T. Dork U. Wulbrand N. Kalin T. Neumann B. Wulf et al. Genetic determinants of airways' colonization with Pseudomonas aeruginosa in cystic fibrosis Lancet 341 1993 189-193
-
(1993)
Lancet
, vol.341
, pp. 189-193
-
-
Kubesch, P.1
Dork, T.2
Wulbrand, U.3
Kalin, N.4
Neumann, T.5
Wulf, B.6
-
8
-
-
0027410084
-
Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening
-
R.T. Mohon J.S. Wagener S.H. Abman W.K. Seltzer F.J. Accurso Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening J Pediatr 122 1993 550-555
-
(1993)
J Pediatr
, vol.122
, pp. 550-555
-
-
Mohon, R.T.1
Wagener, J.S.2
Abman, S.H.3
Seltzer, W.K.4
Accurso, F.J.5
-
9
-
-
0028177981
-
F508del genotype does not predict disease severity in an ethnically diverse cystic fibrosis population
-
L.A. Lester J. Kraut J. Lloyd-Still T. Karrison C. Mott C. Billstrand et al. F508del genotype does not predict disease severity in an ethnically diverse cystic fibrosis population Pediatrics 93 1994 114-118
-
(1994)
Pediatrics
, vol.93
, pp. 114-118
-
-
Lester, L.A.1
Kraut, J.2
Lloyd-Still, J.3
Karrison, T.4
Mott, C.5
Billstrand, C.6
-
10
-
-
13644260469
-
Genotype-phenotype relationship for five CFTR mutations frequently identified in western France
-
I. Duguépéroux M. De Braekeleer Genotype-phenotype relationship for five CFTR mutations frequently identified in western France J Cystic Fibrosis 3 2004 259-263
-
(2004)
J Cystic Fibrosis
, vol.3
, pp. 259-263
-
-
Duguépéroux, I.1
De Braekeleer, M.2
-
11
-
-
0035122157
-
European epidemiologic registry of cystic fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations
-
C. Koch H. Cuppens M. Rainislo U. Madessani H.K. Harms M.E. Hodson et al. European epidemiologic registry of cystic fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations Pediatr Pulmonol 31 2001 1-12
-
(2001)
Pediatr Pulmonol
, vol.31
, pp. 1-12
-
-
Koch, C.1
Cuppens, H.2
Rainislo, M.3
Madessani, U.4
Harms, H.K.5
Hodson, M.E.6
-
12
-
-
0036846329
-
Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
-
A.S. Ramalho S. Beck M. Meyer D. Penque G.R. Cutting M.D. Amaral Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis Am J Respir Cell Mol Biol 27 2002 619-627
-
(2002)
Am J Respir Cell Mol Biol
, vol.27
, pp. 619-627
-
-
Ramalho, A.S.1
Beck, S.2
Meyer, M.3
Penque, D.4
Cutting, G.R.5
Amaral, M.D.6
-
13
-
-
0038663174
-
Effect of genotype on phenotype and mortality in cystic fibrosis: A retrospective cohort study
-
E.F. McKone S.S. Emerson K.L. Edwards M.L. Aitken Effect of genotype on phenotype and mortality in cystic fibrosis: A retrospective cohort study The Lancet 361 2003 1671-1676
-
(2003)
The Lancet
, vol.361
, pp. 1671-1676
-
-
McKone, E.F.1
Emerson, S.S.2
Edwards, K.L.3
Aitken, M.L.4
-
16
-
-
0034565196
-
Improving the health of patients with cystic fibrosis through newborn screening
-
and the Wisconsin Cystic Fibrosis Neonatal Screening Study Group
-
P.M. Farrell and the Wisconsin Cystic Fibrosis Neonatal Screening Study Group Improving the health of patients with cystic fibrosis through newborn screening Adv Pediatr 47 2000 79-115
-
(2000)
Adv Pediatr
, vol.47
, pp. 79-115
-
-
Farrell, P.M.1
-
17
-
-
0033984416
-
Nutritional status of patients with cystic fibrosis with meconium ileus: A comparison with patients without meconium ileus and diagnosed early through neonatal screening
-
H.C. Lai M.R. Kosorok A. Laxova L.A. Davis S.C. FitzSimmon P.M. Farrell Nutritional status of patients with cystic fibrosis with meconium ileus: a comparison with patients without meconium ileus and diagnosed early through neonatal screening Pediatrics 105 2000 53-61
-
(2000)
Pediatrics
, vol.105
, pp. 53-61
-
-
Lai, H.C.1
Kosorok, M.R.2
Laxova, A.3
Davis, L.A.4
FitzSimmon, S.C.5
Farrell, P.M.6
-
18
-
-
0036356520
-
Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening
-
J.L. Bobadilla M.H. Farrell P.M. Farrell Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening Adv Pediatr 49 2002 131-190
-
(2002)
Adv Pediatr
, vol.49
, pp. 131-190
-
-
Bobadilla, J.L.1
Farrell, M.H.2
Farrell, P.M.3
-
19
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
M.J. Welsch A.E. Smith Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis Cell 73 1993 1251-1254
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsch, M.J.1
Smith, A.E.2
-
21
-
-
0034785481
-
Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition
-
M.R. Kosorok L. Zeng She West M.J. Rock M.L. Spalingard A. Laxova et al. Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition Pediatr Pulmonol 32 2001 277-287
-
(2001)
Pediatr Pulmonol
, vol.32
, pp. 277-287
-
-
Kosorok, M.R.1
Zeng, L.2
West, S.3
Rock, M.J.4
Spalingard, M.L.5
Laxova, A.6
-
22
-
-
0031873820
-
Comprehensive analysis of risk factors for acquisition of Pseudomonas aeruginosa in young children with cystic fibrosis
-
M.R. Kosorok M. Jalaluddin P.M. Farrell G. Shen C.E. Colby A. Laxova et al. Comprehensive analysis of risk factors for acquisition of Pseudomonas aeruginosa in young children with cystic fibrosis Pediatr Pulmonol 26 1998 81-88
-
(1998)
Pediatr Pulmonol
, vol.26
, pp. 81-88
-
-
Kosorok, M.R.1
Jalaluddin, M.2
Farrell, P.M.3
Shen, G.4
Colby, C.E.5
Laxova, A.6
-
23
-
-
0031471090
-
Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis
-
M. Corey L. Edwards H. Levison M. Knowles Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis J Pediatr 131 1997 809-814
-
(1997)
J Pediatr
, vol.131
, pp. 809-814
-
-
Corey, M.1
Edwards, L.2
Levison, H.3
Knowles, M.4
-
24
-
-
0030807878
-
Editorial: Cystic fibrosis: Gene therapy or preventive gene transfer?
-
L. Drittantl M.V. Masciovecchio J. Gabbarini M. Vega Editorial: Cystic fibrosis: Gene therapy or preventive gene transfer? Gene Ther 4 1997 1001-1003
-
(1997)
Gene Ther
, vol.4
, pp. 1001-1003
-
-
Drittantl, L.1
Masciovecchio, M.V.2
Gabbarini, J.3
Vega, M.4
-
25
-
-
0036708203
-
Early infection and progression of cystic fibrosis lung disease
-
C. Koch Early infection and progression of cystic fibrosis lung disease Pediatr Pulmonol 34 2002 91-100
-
(2002)
Pediatr Pulmonol
, vol.34
, pp. 91-100
-
-
Koch, C.1
-
27
-
-
0035020939
-
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator gene by denaturing high-performance liquid chromatography: Major implications for genetic counseling
-
C. Le Maréchal M.P. Audrézet I. Quéré O. Raguènes S. Langonne Férec Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator gene by denaturing high-performance liquid chromatography: Major implications for genetic counseling Hum Genet 108 2001 290-298
-
(2001)
Hum Genet
, vol.108
, pp. 290-298
-
-
Le Maréchal, C.1
Audrézet, M.P.2
Quéré, I.3
Raguènes, O.4
Langonne, S.5
Férec6
-
30
-
-
0034040717
-
Wisconsin cystic fibrosis chest radiograph scoring system: Validation and standardization for application to longitudinal studies
-
R.E. Koscik M.R. Kosorok P.M. Farrell J. Collins M.E. Peters A. Laxova et al. Wisconsin cystic fibrosis chest radiograph scoring system: validation and standardization for application to longitudinal studies Pediatr Pulmonol 29 2000 457-467
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 457-467
-
-
Koscik, R.E.1
Kosorok, M.R.2
Farrell, P.M.3
Collins, J.4
Peters, M.E.5
Laxova, A.6
-
31
-
-
0018377101
-
The chest roentgenogram in cystic fibrosis: A new scoring system
-
D. Brasfield G. Hicks S. Song R.E. Tiller The chest roentgenogram in cystic fibrosis: A new scoring system Pediatrics 63 1979 24-29
-
(1979)
Pediatrics
, vol.63
, pp. 24-29
-
-
Brasfield, D.1
Hicks, G.2
Song, S.3
Tiller, R.E.4
-
32
-
-
0037067169
-
Respiratory infections with Pseudomonas aeruginosa in children with cystic fibrosis: Early detection by serology and assessment of risk factors
-
S. West L. Zeng B.L. Lee M.R. Kosorok A. Laxova M.J. Rock et al. Respiratory infections with Pseudomonas aeruginosa in children with cystic fibrosis: Early detection by serology and assessment of risk factors JAMA 287 2002 2958-2967
-
(2002)
JAMA
, vol.287
, pp. 2958-2967
-
-
West, S.1
Zeng, L.2
Lee, B.L.3
Kosorok, M.R.4
Laxova, A.5
Rock, M.J.6
-
34
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
J.T. den Dunnen E. Antonarakis Nomenclature for the description of human sequence variations Hum Genet 109 2001 121-124
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
den Dunnen, J.T.1
Antonarakis, E.2
-
36
-
-
0031471090
-
Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis
-
M. Corey L. Edwards H. Levison M. Knowles Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis J Pediatr 131 1997 809-814
-
(1997)
J Pediatr
, vol.131
, pp. 809-814
-
-
Corey, M.1
Edwards, L.2
Levison, H.3
Knowles, M.4
-
37
-
-
12844270608
-
Longitudinal development of mucoid Pseudomonas aeruginosa infection and lung disease progression in children with cystic fibrosis
-
Z. Li M.R. Kosorok P.M. Farrell A. Laxova S.H.E. West C.G. Green et al. Longitudinal development of mucoid Pseudomonas aeruginosa infection and lung disease progression in children with cystic fibrosis JAMA 293 2005 581-588
-
(2005)
JAMA
, vol.293
, pp. 581-588
-
-
Li, Z.1
Kosorok, M.R.2
Farrell, P.M.3
Laxova, A.4
West, S.H.E.5
Green, C.G.6
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