-
2
-
-
62349106647
-
-
National Newborn Screening and Genetics Resource Center. National Newborn Screening and Genetics Resource Center San Antonio, TX
-
National Newborn Screening and Genetics Resource Center (2003) National newborn screening report 2000. National Newborn Screening and Genetics Resource Center, San Antonio, TX
-
(2003)
-
-
-
3
-
-
0000471085
-
Cystic fibrosis of the pandrease and its relation to celiac disease: A clinical and pathological study
-
D Andersen 1938 Cystic fibrosis of the pandrease and its relation to celiac disease: a clinical and pathological study Am J Dis Child 56 344 399
-
(1938)
Am J Dis Child
, vol.56
, pp. 344-399
-
-
Andersen, D.1
-
5
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
-
LE Gibson RE Cooke 1959 A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis Pediatrics 23 545 549
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
6
-
-
0031900652
-
The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
-
BJ Rosenstein GR Cutting 1998 The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel J Pediatr 132 589 595
-
(1998)
J Pediatr
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
7
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
JR Riordan JM Rommens B Kerem N Alon R Rozmahel Z Grzelczak 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1066 1073
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
-
8
-
-
0141615605
-
The phenotypic consequences of CFTR mutations
-
RK Rowntree A Harris 2003 The phenotypic consequences of CFTR mutations Ann Hum Genet 67 471 485
-
(2003)
Ann Hum Genet
, vol.67
, pp. 471-485
-
-
Rowntree, R.K.1
Harris, A.2
-
9
-
-
0035693855
-
Cystic fibrosis
-
PB Davis 2001 Cystic fibrosis Pediatr Rev 22 257 264
-
(2001)
Pediatr Rev
, vol.22
, pp. 257-264
-
-
Davis, P.B.1
-
10
-
-
62349110425
-
-
Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Bethesda, MD
-
Cystic Fibrosis Foundation (2006) Cystic fibrosis foundation patient registry. Cystic Fibrosis Foundation, Bethesda, MD
-
(2006)
-
-
-
11
-
-
0032433707
-
Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease
-
H Matsui BR Grubb R Tarran SH Randell JT Gatzy CW Davis 1998 Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease Cell 95 1005 1015
-
(1998)
Cell
, vol.95
, pp. 1005-1015
-
-
Matsui, H.1
Grubb, B.R.2
Tarran, R.3
Randell, S.H.4
Gatzy, J.T.5
Davis, C.W.6
-
12
-
-
0032910501
-
The genesis of cystic fibrosis lung disease
-
JJ Wine 1999 The genesis of cystic fibrosis lung disease J Clin Invest 103 309 312
-
(1999)
J Clin Invest
, vol.103
, pp. 309-312
-
-
Wine, J.J.1
-
13
-
-
30944452609
-
Restoring airway surface liquid in cystic fibrosis
-
F Ratjen 2006 Restoring airway surface liquid in cystic fibrosis N Engl J Med 354 291 293
-
(2006)
N Engl J Med
, vol.354
, pp. 291-293
-
-
Ratjen, F.1
-
15
-
-
62349127541
-
-
NCCLS. National Committee for Clinical Laboratory Standards Wayne, PA Document C34-A2. Clinical Laboratory Standards Institute formerly National Committee for Clinical Laboratory Standards
-
NCCLS (2000) Sweat testing: sample collection and quantitative analysis: approved guideline. National Committee for Clinical Laboratory Standards, Wayne, PA Document C34-A2. Clinical Laboratory Standards Institute formerly National Committee for Clinical Laboratory Standards
-
(2000)
-
-
-
16
-
-
4944235029
-
Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs
-
SD Grosse CA Boyle JR Botkin AM Comeau M Kharrazi M Rosenfeld 2004 Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs MMWR Recomm Rep 53 1 36
-
(2004)
MMWR Recomm Rep
, vol.53
, pp. 1-36
-
-
Grosse, S.D.1
Boyle, C.A.2
Botkin, J.R.3
Comeau, A.M.4
Kharrazi, M.5
Rosenfeld, M.6
-
19
-
-
0033557197
-
Novel pharmacologic therapies for cystic fibrosis
-
PL Zeitlin 1999 Novel pharmacologic therapies for cystic fibrosis J Clin Invest 103 447 452
-
(1999)
J Clin Invest
, vol.103
, pp. 447-452
-
-
Zeitlin, P.L.1
-
20
-
-
36348979793
-
Sodium channels and cystic fibrosis
-
SH Donaldson RC Boucher 2007 Sodium channels and cystic fibrosis Chest 132 1631 1636
-
(2007)
Chest
, vol.132
, pp. 1631-1636
-
-
Donaldson, S.H.1
Boucher, R.C.2
-
22
-
-
0035143990
-
Comprehensive mutation screening in a cystic fibrosis center
-
JJ Wine E Kuo G Hurlock RB Moss 2001 Comprehensive mutation screening in a cystic fibrosis center Pediatrics 107 280 286
-
(2001)
Pediatrics
, vol.107
, pp. 280-286
-
-
Wine, J.J.1
Kuo, E.2
Hurlock, G.3
Moss, R.B.4
-
23
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
H Cuppens W Lin M Jaspers B Costes H Teng A Vankeerberghen 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation J Clin Invest 101 487 496
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
Costes, B.4
Teng, H.5
Vankeerberghen, A.6
-
25
-
-
33749053216
-
Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype
-
BP O'Sullivan RG Zwerdling HL Dorkin AM Comeau R Parad 2006 Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype Pediatrics 118 1260 1265
-
(2006)
Pediatrics
, vol.118
, pp. 1260-1265
-
-
O'Sullivan, B.P.1
Zwerdling, R.G.2
Dorkin, H.L.3
Comeau, A.M.4
Parad, R.5
-
26
-
-
33947107377
-
Pulmonary manifestations in deltaF508/R117H
-
CL Ren 2007 Pulmonary manifestations in deltaF508/R117H Pediatrics 119 647 648
-
(2007)
Pediatrics
, vol.119
, pp. 647-648
-
-
Ren, C.L.1
-
27
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
WE Highsmith LH Burch Z Zhou JC Olsen TE Boat A Spock 1994 A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations N Engl J Med 331 974 980
-
(1994)
N Engl J Med
, vol.331
, pp. 974-980
-
-
Highsmith, W.E.1
Burch, L.H.2
Zhou, Z.3
Olsen, J.C.4
Boat, T.E.5
Spock, A.6
-
29
-
-
0028991826
-
In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
-
MR Knowles AM Paradiso RC Boucher 1995 In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis Hum Gene Ther 6 445 455
-
(1995)
Hum Gene Ther
, vol.6
, pp. 445-455
-
-
Knowles, M.R.1
Paradiso, A.M.2
Boucher, R.C.3
-
30
-
-
0023641255
-
Clinical application of transepithelial potential difference measurements in cystic fibrosis
-
RA Sauder SE Chesrown GM Loughlin 1987 Clinical application of transepithelial potential difference measurements in cystic fibrosis J Pediatr 111 353 358
-
(1987)
J Pediatr
, vol.111
, pp. 353-358
-
-
Sauder, R.A.1
Chesrown, S.E.2
Loughlin, G.M.3
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