-
1
-
-
0020070795
-
Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption
-
Gaskin K, Gurwitz D, Durie P, Corey M, Levison H, Forstner G. Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption. J Pediatr 1982; 100:857-862.
-
(1982)
J Pediatr
, vol.100
, pp. 857-862
-
-
Gaskin, K.1
Gurwitz, D.2
Durie, P.3
Corey, M.4
Levison, H.5
Forstner, G.6
-
2
-
-
0034054553
-
Evaluation of fecal pancreatic elastase-1 as a measure of pancreatic exocrine function in children with cystic fibrosis
-
Cade A, Walters MP, McGinley N, Firth J, Brownlee KG, Conway SP, Littlewood JM. Evaluation of fecal pancreatic elastase-1 as a measure of pancreatic exocrine function in children with cystic fibrosis. Pediatr Pulmonol 2000; 29:172-176.
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 172-176
-
-
Cade, A.1
Walters, M.P.2
McGinley, N.3
Firth, J.4
Brownlee, K.G.5
Conway, S.P.6
Littlewood, J.M.7
-
3
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998; 339:653-658.
-
(1998)
N Engl J Med
, vol.339
, pp. 653-658
-
-
Cohn, J.A.1
Friedman, K.J.2
Noone, P.G.3
Knowles, M.R.4
Silverman, L.M.5
Jowell, P.S.6
-
4
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chilló n M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332:1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillón, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
-
5
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
The Cystic Fibrosis Genotype Phenotype Consortium
-
The Cystic Fibrosis Genotype Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993; 329:1308-1313.
-
(1993)
N Engl J Med
, vol.329
, pp. 1308-1313
-
-
-
6
-
-
0027278161
-
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+ 10 kb C→T mutation
-
Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+ 10 kb C-T mutation. Lancet 1993; 342:25-26.
-
(1993)
Lancet
, vol.342
, pp. 25-26
-
-
Augarten, A.1
Kerem, B.S.2
Yahav, Y.3
Noiman, S.4
Rivlin, Y.5
Tal, A.6
-
7
-
-
1842603903
-
CFTR genotypes in patients with normal or borderline sweat chloride levels
-
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003; 22:340.
-
(2003)
Hum Mutat
, vol.22
, pp. 340
-
-
Feldmann, D.1
Couderc, R.2
Audrezet, M.P.3
Ferec, C.4
Bienvenu, T.5
Desgeorges, M.6
-
8
-
-
0031219150
-
A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
-
Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, et al. A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatrics 1997; 100:E5.
-
(1997)
Pediatrics
, vol.100
-
-
Kerem, E.1
Nissim-Rafinia, M.2
Argaman, Z.3
Augarten, A.4
Bentur, L.5
Klar, A.6
-
10
-
-
84864180433
-
Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
-
Friedman K, Heim RA, Knowles MR, Lawrence M, Silverman LM. Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum Mutat 2003; 22:340.
-
(2003)
Hum Mutat
, vol.22
, pp. 340
-
-
Friedman, K.1
Heim, R.A.2
Knowles, M.R.3
Lawrence, M.4
Silverman, L.M.5
-
11
-
-
0031900652
-
The diagnosis of cystic fibrosis: A consensus statement
-
Cystic Fibrosis Foundation Consensus Panel
-
Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998; 132:589-595.
-
(1998)
J Pediatr
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
12
-
-
33745809841
-
Cystic fibrosis: Terminology and diagnostic algorithms
-
Diagnostic Working Group
-
De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M. Diagnostic Working Group. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006; 61:627-635.
-
(2006)
Thorax
, vol.61
, pp. 627-635
-
-
De Boeck, K.1
Wilschanski, M.2
Castellani, C.3
Taylor, C.4
Cuppens, H.5
Dodge, J.6
Sinaasappel, M.7
-
13
-
-
17844376483
-
Nasal potential difference measurements in patients with atypical cystic fibrosis
-
Wilschanski M, Famini H, Strauss-Liviatan N, Rivlin J, Blau H, Bibi H, et al. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001; 17:1208-1215.
-
(2001)
Eur Respir J
, vol.17
, pp. 1208-1215
-
-
Wilschanski, M.1
Famini, H.2
Strauss-Liviatan, N.3
Rivlin, J.4
Blau, H.5
Bibi, H.6
-
14
-
-
0031292686
-
Cystic fibrosis in Jews: Frequency and mutation distribution
-
Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test 1997; 1:35-39.
-
(1997)
Genet Test
, vol.1
, pp. 35-39
-
-
Kerem, B.1
Chiba-Falek, O.2
Kerem, E.3
-
15
-
-
0002241792
-
Lipase
-
Thomas L editor. Marburg: Medizinische Verlagsgesellschaft
-
Lorentz KA. Lipase. In: Thomas L, editor. Labor und diagnose. Marburg: Medizinische Verlagsgesellschaft; 1992. pp. 149-153.
-
(1992)
Labor und Diagnose
, pp. 149-153
-
-
Lorentz, K.A.1
-
16
-
-
0021369735
-
Colipase and lipase secretion in childhood onset pancreatic insufficiency
-
Gaskin KJ, Durie PR, Lee L, Hill R, Forstner GG. Colipase and lipase secretion in childhood onset pancreatic insufficiency. Gastroenterology 1984; 86:1-7.
-
(1984)
Gastroenterology
, vol.86
, pp. 1-7
-
-
Gaskin, K.J.1
Durie, P.R.2
Lee, L.3
Hill, R.4
Forstner, G.G.5
-
17
-
-
0025942250
-
Immunocytochemical localization of the cystic fibrosis gene product CFTR
-
Crawford I, Maloney PC, Zeitlin PL, Guggino WB, Hyde SC, Turley H, et al. Immunocytochemical localization of the cystic fibrosis gene product CFTR. Proc Natl Acad Sci USA 1991; 88:9262-9266.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 9262-9266
-
-
Crawford, I.1
Maloney, P.C.2
Zeitlin, P.L.3
Guggino, W.B.4
Hyde, S.C.5
Turley, H.6
-
18
-
-
0027162649
-
Molecular mechanism of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh MJ, Smith AE. Molecular mechanism of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73:1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
19
-
-
0029616734
-
Cystic fibrosis: Genotypic and phenotypic variations
-
Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995; 29:777-807.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
20
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994; 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
-
21
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993; 3:151-156.
-
(1993)
Nat Genet
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
Cutting, G.R.4
Crystal, R.G.5
-
22
-
-
0027195534
-
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues
-
Tizzano EF, Chitayat D, Buchwald M. Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues. Hum Mol Genet 1993; 2:219-224.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 219-224
-
-
Tizzano, E.F.1
Chitayat, D.2
Buchwald, M.3
-
23
-
-
6544245165
-
Serum lipase levels pre- and post-Lundh meal: A test for evaluating exocrine pancreatic status in cystic fibrosis patients
-
Augarten A, Katznelson D, Dubenbaum L, Doolman R, Sela BA, Lusky A, et al. Serum lipase levels pre- and post-Lundh meal: a test for evaluating exocrine pancreatic status in cystic fibrosis patients. Int J Clin Lab Res 1998; 28:226-229.
-
(1998)
Int J Clin Lab Res
, vol.28
, pp. 226-229
-
-
Augarten, A.1
Katznelson, D.2
Dubenbaum, L.3
Doolman, R.4
Sela, B.A.5
Lusky, A.6
-
24
-
-
13944279989
-
Early decline of pancreatic function in cystic fibrosis patients with class 1 or 2 CFTR mutations
-
Walkowiak J, Sands D, Nowakowska A, Piotrowski R, Zybert K, Herzig KH, Milanowski A. Early decline of pancreatic function in cystic fibrosis patients with class 1 or 2 CFTR mutations. J Pediatr Gastroenterol Nutr 2005; 40:199-201.
-
(2005)
J Pediatr Gastroenterol Nutr
, vol.40
, pp. 199-201
-
-
Walkowiak, J.1
Sands, D.2
Nowakowska, A.3
Piotrowski, R.4
Zybert, K.5
Herzig, K.H.6
Milanowski, A.7
-
25
-
-
13944257629
-
Serum lipase after secretin stimulation detects mild pancreatic involvement in cystic fibrosis
-
Walkowiak J, Nousia-Arvanitakis S, Lisowska A, Piotrowski R, Strzykala K, Bychowiec B, et al. Serum lipase after secretin stimulation detects mild pancreatic involvement in cystic fibrosis. J Pediatr Gastroenterol Nutr 2004; 38:430-435.
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 430-435
-
-
Walkowiak, J.1
Nousia-Arvanitakis, S.2
Lisowska, A.3
Piotrowski, R.4
Strzykala, K.5
Bychowiec, B.6
-
26
-
-
0035726563
-
Analysis of exocrine pancreatic function in cystic fibrosis: One mild CFTR mutation does not exclude pancreatic insufficiency
-
Walkowiak J, Herzig KH,Witt M, Pogorzelski A, Piotrowski R, Barra E, et al. Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency. Eur J Clin Invest 2001; 31:796-801.
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 796-801
-
-
Walkowiak, J.1
Herzig, K.H.2
Witt, M.3
Pogorzelski, A.4
Piotrowski, R.5
Barra, E.6
-
27
-
-
0036892322
-
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis
-
Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Gastroenterology 2002; 123:1857-1864.
-
(2002)
Gastroenterology
, vol.123
, pp. 1857-1864
-
-
Durno, C.1
Corey, M.2
Zielenski, J.3
Tullis, E.4
Tsui, L.C.5
Durie, P.6
-
28
-
-
23344450542
-
Pancreatitis among patients with cystic fibrosis: Correlation with pancreatic status and genotype
-
De Boeck K,Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. Pediatrics 2005; 115:e463-e469.
-
(2005)
Pediatrics
, vol.115
-
-
De Boeck Kweren, M.1
Proesmans, M.2
Kerem, E.3
|