-
1
-
-
0026516394
-
Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis
-
Santamaria F, Salvatore D, Castaglione O, Raia V, De Ritis G, Sebastio G. Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis. Hum Genet 1992;88:639-41.
-
(1992)
Hum Genet
, vol.88
, pp. 639-641
-
-
Santamaria, F.1
Salvatore, D.2
Castaglione, O.3
Raia, V.4
De Ritis, G.5
Sebastio, G.6
-
2
-
-
0025133246
-
Population analysis of the major mutation in cystic fibrosis
-
Romeo G, Devoto M. Population analysis of the major mutation in cystic fibrosis. Hum Genet 1992;85:391-145.
-
(1992)
Hum Genet
, vol.85
, pp. 391-1145
-
-
Romeo, G.1
Devoto, M.2
-
3
-
-
0028114251
-
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis
-
De Marchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat 1994;4:281-90.
-
(1994)
Hum Mutat
, vol.4
, pp. 281-290
-
-
De Marchi, J.M.1
Richards, C.S.2
Fenwick, R.G.3
Pace, R.4
Beaudet, A.L.5
-
4
-
-
19144363921
-
Analysis of 22 mutations and of the XV2c and KM19 polymorphisms in 132 chromosomes of cystic fibrosis patients from the Naples (Italy) area
-
Castaldo G, Salvatore F, Sebastio G, et al. Analysis of 22 mutations and of the XV2c and KM19 polymorphisms in 132 chromosomes of cystic fibrosis patients from the Naples (Italy) area. J Tumor Marker Oncol 1994;9:71.
-
(1994)
J Tumor Marker Oncol
, vol.9
, pp. 71
-
-
Castaldo, G.1
Salvatore, F.2
Sebastio, G.3
-
5
-
-
0028323310
-
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: I148T, LI077P, Y1092X, 2183 AA→G
-
Bozon D, Zielinski J, Rininsland F, et al. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: I148T, LI077P, Y1092X, 2183 AA→G. Hum Mutat 1994;3:330-4.
-
(1994)
Hum Mutat
, vol.3
, pp. 330-334
-
-
Bozon, D.1
Zielinski, J.2
Rininsland, F.3
-
6
-
-
0026734588
-
Genetic determination of pancreatic function in cystic fibrosis
-
Kristidis P, Bozon D, Corey M, et al. Genetic determination of pancreatic function in cystic fibrosis. Am J Hum Genet 1993;50:1178-84.
-
(1993)
Am J Hum Genet
, vol.50
, pp. 1178-1184
-
-
Kristidis, P.1
Bozon, D.2
Corey, M.3
-
7
-
-
0028321427
-
Mutation analysis in 600 French cystic fibrosis patients
-
Chevalier-Porst F, Bonardot AM, Gilly R, et al. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 1994;31:541-4.
-
(1994)
J Med Genet
, vol.31
, pp. 541-544
-
-
Chevalier-Porst, F.1
Bonardot, A.M.2
Gilly, R.3
-
8
-
-
0024463492
-
DNA amplification for detection of the XV 2c polymorphism linked to cystic fibrosis
-
Rosenbloom CL, Kerem BS, Rommens JM, et al. DNA amplification for detection of the XV 2c polymorphism linked to cystic fibrosis. Nucleic Acids Res 1989;17:7117.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 7117
-
-
Rosenbloom, C.L.1
Kerem, B.S.2
Rommens, J.M.3
-
9
-
-
0023931993
-
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM 19 polymorphism
-
Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM 19 polymorphism. Lancet 1988;i:102.
-
(1988)
Lancet
, vol.1
, pp. 102
-
-
Feldman, G.L.1
Williamson, R.2
Beaudet, A.L.3
O'Brien, W.E.4
-
10
-
-
0025840576
-
CA/GT micro-satellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover
-
Morral N, Nunes V, Casals T, Estivill X. CA/GT micro-satellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics 1991;10:692-8.
-
(1991)
Genomics
, vol.10
, pp. 692-698
-
-
Morral, N.1
Nunes, V.2
Casals, T.3
Estivill, X.4
-
11
-
-
0025241696
-
The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation
-
Kerem E, Corey M, Kerem ES, et al. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation. N Engl J Med 1990;323:1517-22.
-
(1990)
N Engl J Med
, vol.323
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, E.S.3
-
12
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-13.
-
(1993)
N Engl J Med
, vol.329
, pp. 1308-1313
-
-
-
13
-
-
0028220333
-
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
-
Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994;93:364-8.
-
(1994)
Hum Genet
, vol.93
, pp. 364-368
-
-
Dean, M.1
Santis, G.2
-
14
-
-
0028902968
-
Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North Eastern Italy: Identification of 90% of the mutations
-
Bonizzato A, Bisceglia L, Mango C, et al. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North Eastern Italy: identification of 90% of the mutations. Hum Genet 1995;95:397-402.
-
(1995)
Hum Genet
, vol.95
, pp. 397-402
-
-
Bonizzato, A.1
Bisceglia, L.2
Mango, C.3
-
16
-
-
0025830236
-
A cystic fibrosis patient homozygous for the nonsense mutation R553X
-
Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J. A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Med Genet 1991;28:715-17.
-
(1991)
J Med Genet
, vol.28
, pp. 715-717
-
-
Bal, J.1
Stuhrmann, M.2
Schloesser, M.3
Schmidtke, J.4
Reiss, J.5
-
17
-
-
0025775435
-
Discrimination between recurrent mutation and identity by descent: Application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene
-
Reiss J, Cooper DN, Bal J, et al Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet 1991;87:457-61.
-
(1991)
Hum Genet
, vol.87
, pp. 457-461
-
-
Reiss, J.1
Cooper, D.N.2
Bal, J.3
-
18
-
-
0026322140
-
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
-
Hamosh A, Trapnell BC, Zeitlin PL, et al. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991;88:1880-5.
-
(1991)
J Clin Invest
, vol.88
, pp. 1880-1885
-
-
Hamosh, A.1
Trapnell, B.C.2
Zeitlin, P.L.3
-
19
-
-
0027451874
-
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X
-
Will K, Reiss J, Dean M, et al. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet 1993;30:833-7.
-
(1993)
J Med Genet
, vol.30
, pp. 833-837
-
-
Will, K.1
Reiss, J.2
Dean, M.3
|