-
1
-
-
0033773012
-
Antibiotic therapy against Pseudomonas aeruginosa in cystic fibrosis: A European consensus
-
Doring G, Conway SP, Heijerman HG et al. Antibiotic therapy against Pseudomonas aeruginosa in cystic fibrosis: a European consensus. Eur Respir J 2000: 16 (4): 749-767.
-
(2000)
Eur. Respir. J.
, vol.16
, Issue.4
, pp. 749-767
-
-
Doring, G.1
Conway, S.P.2
Heijerman, H.G.3
-
2
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 7th edn. New York: McGraw hill
-
Welsh MJ, Tsui LC, Bost TF et al. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th edn. New York: McGraw hill, 1995: 3799-3879.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3799-3879
-
-
Welsh, M.J.1
Tsui, L.C.2
Bost, T.F.3
-
3
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
(4922)
-
Kerem BS, Rommens JM, Buchanan JA et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989: 245 (4922): 1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchanan, J.A.3
-
4
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterisation of complementary cDNA
-
(4922)
-
Riordan JR, Rommens JM, Kerem BS et al. Identification of the cystic fibrosis gene: cloning and characterisation of complementary cDNA. Science 1989: 245 (4922): 1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.S.3
-
5
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
(4922)
-
Rommens JM, Iannuzzi M, Kerem BS et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989: 245 (4922): 1059-1064.
-
(1989)
Science
, vol.245
, pp. 1059-1064
-
-
Rommens, J.M.1
Iannuzzi, M.2
Kerem, B.S.3
-
6
-
-
0027185802
-
Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity
-
Koh J, Sferra TJ, Collins FS. Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity. J Biol Chem 1993: 268 (21): 15912-15921.
-
(1993)
J. Biol. Chem.
, vol.268
, Issue.21
, pp. 15912-15921
-
-
Koh, J.1
Sferra, T.J.2
Collins, F.S.3
-
7
-
-
0032004378
-
A novel process for mutation detection using uracil DNA-glycosylase
-
Vaughan P, McCarthy TV. A novel process for mutation detection using uracil DNA-glycosylase. Nucleic Acids Res 1998: 26 (3): 810-815.
-
(1998)
Nucleic Acids Res.
, vol.26
, Issue.3
, pp. 810-815
-
-
Vaughan, P.1
McCarthy, T.V.2
-
8
-
-
0042693038
-
-
Primer3 (WorldWide web). Primer design
-
Primer3 (WorldWide web). Primer design. http://www. genome.wi.mit.edu/cgibin/primer/primer3_www.cgi.
-
-
-
-
9
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (ABCC7) gene
-
Zielenski J, Rozmahel R, Bozon D et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (ABCC7) gene. Genomics 1991: 10 (1): 214-228.
-
(1991)
Genomics
, vol.10
, Issue.1
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
-
10
-
-
0042693037
-
-
Pubmed (WorldWide web). National Library of Medicine. = PubMed
-
Pubmed (WorldWide web). National Library of Medicine. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db = PubMed.
-
-
-
-
11
-
-
0028783918
-
The Irish cystic fibrosis database
-
Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, DeArce M. The Irish cystic fibrosis database. J Med Genet 1995: 32 (12): 972-975.
-
(1995)
J. Med. Genet.
, vol.32
, Issue.12
, pp. 972-975
-
-
Cashman, S.M.1
Patino, A.2
Delgado, M.G.3
Byrne, L.4
Denham, B.5
DeArce, M.6
-
12
-
-
0025009063
-
Frequency of ΔF508 among Irish cystic fibrosis patients
-
de Arce MA, Mulherin D, McWilliam P, Lawler M, Fitzgerald MX, Humphries P. Frequency of ΔF508 among Irish cystic fibrosis patients. Hum Genet 1990: 85 (4): 403-404.
-
(1990)
Hum. Genet.
, vol.85
, Issue.4
, pp. 403-404
-
-
de Arce, M.A.1
Mulherin, D.2
McWilliam, P.3
Lawler, M.4
Fitzgerald, M.X.5
Humphries, P.6
-
13
-
-
0029797823
-
Mutation characterisation of ABCC7 Gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes
-
Hughes DJ, Hill AJ, Macek M Jr, Redmond AO, Nevin NC, Graham CA. Mutation characterisation of ABCC7 Gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for 94% of CF chromosomes. Hum Mutat 1996: 8 (4): 340-347.
-
(1996)
Hum. Mutat.
, vol.8
, Issue.4
, pp. 340-347
-
-
Hughes, D.J.1
Hill, A.J.2
Macek M., Jr.3
Redmond, A.O.4
Nevin, N.C.5
Graham, C.A.6
-
14
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
The Cystic Fibrosis Genetic Analysis Consortium
-
The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994: 4: 167-177.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 167-177
-
-
-
15
-
-
0028784242
-
Cystic fibrosis mutation analysis: Report from 22 UK regional genetics laboratories
-
Schwarz MJ, Malone GM, Haworth A et al. Cystic fibrosis mutation analysis: report from 22 UK regional genetics laboratories. Hum Mutat 1995: 6 (4): 326-333.
-
(1995)
Hum. Mutat.
, vol.6
, Issue.4
, pp. 326-333
-
-
Schwarz, M.J.1
Malone, G.M.2
Haworth, A.3
-
16
-
-
0034746570
-
ABCC7 gene analysis in 207 patients with cystic fibrosis in southwest France: High frequency of N1303K and 1811+1.6bA > G mutations
-
Federici S, Iron A, Reboul MP et al. ABCC7 gene analysis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA > G mutations. Arch Pediatr 2001: 8 (2): 150-157.
-
(2001)
Arch. Pediatr.
, vol.8
, Issue.2
, pp. 150-157
-
-
Federici, S.1
Iron, A.2
Reboul, M.P.3
-
17
-
-
0026629124
-
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occurs in common among Caucasians
-
Cutting GR, Curristin SM, Nash E et al. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occurs in common among Caucasians. Am J Hum Genet 1992: 50 (6): 1185-1194.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, Issue.6
, pp. 1185-1194
-
-
Cutting, G.R.1
Curristin, S.M.2
Nash, E.3
-
18
-
-
0029151485
-
ABCC7 gene variant for patients with congenital absence of vas deferens
-
Zielenski J, Patrizio P, Corey M et al. ABCC7 gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 1995: 57 (4): 958-960.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, Issue.4
, pp. 958-960
-
-
Zielenski, J.1
Patrizio, P.2
Corey, M.3
-
19
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator (ABCC7) genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
Cuppens H, Lin W, Jaspers M et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator (ABCC7) genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998: 101 (2): 487-496.
-
(1998)
J. Clin. Invest.
, vol.101
, Issue.2
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
-
20
-
-
0032756818
-
Functional analysis of cis-acting elements regulating the alternative splicing of human ABCC7 exon 9
-
Niksic M, Romano M, Buratti E, Pagani F, Baralle FE. Functional analysis of cis-acting elements regulating the alternative splicing of human ABCC7 exon 9. Hum Mol Genet 1999: 8 (13): 2339-2349.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.13
, pp. 2339-2349
-
-
Niksic, M.1
Romano, M.2
Buratti, E.3
Pagani, F.4
Baralle, F.E.5
-
21
-
-
0027521663
-
A mutation in ABCC7 produces different phenotypes depending on chromosomal background
-
Kiesewetter SM, Macek M Jr, Davis C et al. A mutation in ABCC7 produces different phenotypes depending on chromosomal background. Nat Genet 1993: 5 (3): 274-278.
-
(1993)
Nat. Genet.
, vol.5
, Issue.3
, pp. 274-278
-
-
Kiesewetter, S.M.1
Macek M., Jr.2
Davis, C.3
-
22
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator (ABCC7) deficient mice by a secondary genetic factor
-
Rozmahel R, Wilschanski M, Matin A et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator (ABCC7) deficient mice by a secondary genetic factor. Nat Genet 1996: 12 (3): 280-287.
-
(1996)
Nat. Genet.
, vol.12
, Issue.3
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
-
23
-
-
0027730638
-
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the ABCC7 gene
-
Cuppens H, Marynen P, De Boeck C, Cassiman JJ. Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the ABCC7 gene. Genomics 1993: 18 (3): 693-697.
-
(1993)
Genomics
, vol.18
, Issue.3
, pp. 693-697
-
-
Cuppens, H.1
Marynen, P.2
De Boeck, C.3
Cassiman, J.J.4
-
24
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Engl J Med 1995: 332 (22): 1475-1480.
-
(1995)
New Engl. J. Med.
, vol.332
, Issue.22
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
-
25
-
-
0028791190
-
Frequent occurrence of the ABCC7 intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
-
Costes BE, Girodon E, Ghanem N et al. Frequent occurrence of the ABCC7 intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995: 3 (5): 285-293.
-
(1995)
Eur. J. Hum. Genet.
, vol.3
, Issue.5
, pp. 285-293
-
-
Costes, B.E.1
Girodon, E.2
Ghanem, N.3
-
26
-
-
0027234275
-
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
-
Claustres M, Laussel M, Desgeorges M et al. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 1993: 2 (8): 1209-1213.
-
(1993)
Hum. Mol. Genet.
, vol.2
, Issue.8
, pp. 1209-1213
-
-
Claustres, M.1
Laussel, M.2
Desgeorges, M.3
-
27
-
-
0028196665
-
ABCC7 haplotype backgrounds on normal and mutant ABCC7 genes
-
Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ. ABCC7 haplotype backgrounds on normal and mutant ABCC7 genes. Hum Mol Genet 1994: 3 (4): 607-614.
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.4
, pp. 607-614
-
-
Cuppens, H.1
Teng, H.2
Raeymaekers, P.3
De Boeck, C.4
Cassiman, J.J.5
-
28
-
-
0026816352
-
Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: Application to the study of some common cystic fibrosis mutations
-
Gasparini P, Bonizzato A, Dognini M, Pignatti PF. Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Mol Cell Probes 1992: 6 (1): 1-7.
-
(1992)
Mol. Cell Probes
, vol.6
, Issue.1
, pp. 1-7
-
-
Gasparini, P.1
Bonizzato, A.2
Dognini, M.3
Pignatti, P.F.4
-
29
-
-
0025840576
-
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (ABCC7) gene are not generated by unequal crossing over
-
Morral N, Nunes V, Casals T, Estivill X. CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (ABCC7) gene are not generated by unequal crossing over. Genomics 1991: 10 (3): 692-698.
-
(1991)
Genomics
, vol.10
, Issue.3
, pp. 692-698
-
-
Morral, N.1
Nunes, V.2
Casals, T.3
Estivill, X.4
-
30
-
-
0026779977
-
Multiplex amplification of three microsatellites within the ABCC7 gene
-
Morral N, Estivill X. Multiplex amplification of three microsatellites within the ABCC7 gene. Genomics 1992: 13 (4): 1362-1364.
-
(1992)
Genomics
, vol.13
, Issue.4
, pp. 1362-1364
-
-
Morral, N.1
Estivill, X.2
-
31
-
-
0031799344
-
Cystic fibrosis like disease unrelated to the cystic fibrosis transmembrane conductance regulator
-
Mekus F, Ballmann M, Bronsveld I et al. Cystic fibrosis like disease unrelated to the cystic fibrosis transmembrane conductance regulator. Hum Genet 1998: 102 (5): 582-586.
-
(1998)
Hum. Genet.
, vol.102
, Issue.5
, pp. 582-586
-
-
Mekus, F.1
Ballmann, M.2
Bronsveld, I.3
-
32
-
-
0034640496
-
Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
-
Wei L, Vankeerberghen A, Jaspers M, Cassiman J, Nilius B, Cuppens H. Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR. FEBS Lett 2000: 473 (2): 149-153.
-
(2000)
FEBS Lett.
, vol.473
, Issue.2
, pp. 149-153
-
-
Wei, L.1
Vankeerberghen, A.2
Jaspers, M.3
Cassiman, J.4
Nilius, B.5
Cuppens, H.6
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