-
1
-
-
0000026508
-
Cystic fibrosis
-
Scriver C, Beaudet A, Sly W, Valle D, eds. McGraw-Hill: New York
-
Welsh M, Tsui L-C, Boat T, Beaudet A. Cystic fibrosis. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic Basis of Inherited Disease, 7th edn. McGraw-Hill: New York, 1995: 3799-3876.
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Edn.
, pp. 3799-3876
-
-
Welsh, M.1
Tsui, L.-C.2
Boat, T.3
Beaudet, A.4
-
2
-
-
0025133518
-
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem B-S, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan J, Collins F, Rommens J, Tsui L-C. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci 1990: 87: 8447-8451.
-
(1990)
Proc Natl Acad Sci
, vol.87
, pp. 8447-8451
-
-
Kerem, B.-S.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Yahav, J.6
Kennedy, D.7
Riordan, J.8
Collins, F.9
Rommens, J.10
Tsui, L.-C.11
-
3
-
-
0028910076
-
The cystic fibrosis transmembrane conductance regulator gene
-
Tsui L-C. The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med 1995: 151: 47-53.
-
(1995)
Am J Respir Crit Care Med
, vol.151
, pp. 47-53
-
-
Tsui, L.-C.1
-
4
-
-
0029866870
-
The molecular basis for disease variability in cystic fibrosis
-
Kerem B-S, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet 1996: 4: 65-73.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 65-73
-
-
Kerem, B.-S.1
Kerem, E.2
-
5
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey M-C, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Ferec X, Estivill X. 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
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.-C.7
Ruiz-Romero, J.8
Verlingue, C.9
Claustres, M.10
Nunes, V.11
Ferec, X.12
Estivill, X.13
-
6
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Rozmahel R, Bozon D, Kerem B-S, Grzelczak Z, Riordan J, Rommens J, Tsui L-C. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991: 10: 214-228.
-
(1991)
Genomics
, vol.10
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
Kerem, B.-S.4
Grzelczak, Z.5
Riordan, J.6
Rommens, J.7
Tsui, L.-C.8
-
7
-
-
0024423668
-
Identification of the cystic fibrosis gene:genetic analysis
-
Kerem B-S, Rommens J, Buchanan J, Markiewicz D, Cox T, Chakravarti A, Buchwald M, Tsui L-C. Identification of the cystic fibrosis gene:genetic analysis. Science 1989: 245: 1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.2
Buchanan, J.3
Markiewicz, D.4
Cox, T.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.-C.8
-
8
-
-
0028340603
-
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
-
Schaedel C, Kristoffersson A-C, Kornfält R, Holmberg L. A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum Mol Genet 1994: 3: 1001-1002.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1001-1002
-
-
Schaedel, C.1
Kristoffersson, A.-C.2
Kornfält, R.3
Holmberg, L.4
-
9
-
-
0027330222
-
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent
-
Saba L, Leoni G, Meloni A, Faa V, Cao A, Rosatelli M. Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent. Hum Mol Genet 1993: 2: 1739-1740.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1739-1740
-
-
Saba, L.1
Leoni, G.2
Meloni, A.3
Faa, V.4
Cao, A.5
Rosatelli, M.6
-
10
-
-
0029128156
-
A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration
-
Leoni G, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli M. A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 1995: 127: 281-283.
-
(1995)
J Pediatr
, vol.127
, pp. 281-283
-
-
Leoni, G.1
Pitzalis, S.2
Podda, R.3
Zanda, M.4
Silvetti, M.5
Caocci, L.6
Cao, A.7
Rosatelli, M.8
-
11
-
-
0029869939
-
Mild CF phenotype associated with T338I missense mutation
-
Padoan R, Cremonesi L, Giunta A. Mild CF phenotype associated with T338I missense mutation. J Pediatr 1996: 128: 721-722.
-
(1996)
J Pediatr
, vol.128
, pp. 721-722
-
-
Padoan, R.1
Cremonesi, L.2
Giunta, A.3
-
12
-
-
0025241696
-
The relation between genotype and phenotype in cystic fibrosis- analysis of the most common mutation (DF508)
-
Kerem E, Corey M, Kerem B-S, Rommens J, Markiewicz D, Levison H, Tsui L-C, Durie P. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (DF508). N Engl J Med 1990: 323: 1517-1522.
-
(1990)
N Engl J Med
, vol.323
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, B.-S.3
Rommens, J.4
Markiewicz, D.5
Levison, H.6
Tsui, L.-C.7
Durie, P.8
-
13
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng S, Gregory R, Marshall J, Paul S, Souza D, White G, O'Riordan C, Smith A. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990: 63: 827-834.
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.1
Gregory, R.2
Marshall, J.3
Paul, S.4
Souza, D.5
White, G.6
O'Riordan, C.7
Smith, A.8
-
14
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu C-S, Trapnell B, Curristin S, Cutting G, Crystal R. 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.2
Curristin, S.3
Cutting, G.4
Crystal, R.5
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