-
1
-
-
0001752544
-
Cystic fibrosis
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Welsh M.J., Ramsey B.W., Accurso F.J., and Cutting G.R. Cystic fibrosis. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York
-
(2001)
The metabolic and molecular bases of inherited disease. 8th ed.
-
-
Welsh, M.J.1
Ramsey, B.W.2
Accurso, F.J.3
Cutting, G.R.4
-
2
-
-
0024423668
-
Identification of the cystic fibrosis gene: genetic analysis
-
Kerem B., Rommens J.M., Buchanan J.A., Markiewicz D., Cox T.K., Chakravarti A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245 (1989) 1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
-
3
-
-
0024424270
-
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
-
Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989) 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
-
4
-
-
0024453308
-
Identification of the cystic fibrosis gene: chromosome walking and jumping
-
Rommens J.M., Iannuzzi M.C., Kerem B., Drumm M.L., Melmer G., Dean M., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245 (1989) 1059-1065
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
-
5
-
-
0029616734
-
Cystic fibrosis: genotypic and phenotypic variations
-
Zielenski J., and Tsui L.C. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29 (1995) 777-807
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
6
-
-
0026878879
-
Detection of over 98% cystic fibrosis mutations in a Celtic population
-
Férec C., Audrézet M.P., Mercier B., Guillermit H., Moullier P., Quéré I., et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1 (1992) 188-191
-
(1992)
Nat Genet
, vol.1
, pp. 188-191
-
-
Férec, C.1
Audrézet, M.P.2
Mercier, B.3
Guillermit, H.4
Moullier, P.5
Quéré, I.6
-
7
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
-
Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.C., Antonarakis S.E., et al. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346 (1990) 366-369
-
(1990)
Nature
, vol.346
, pp. 366-369
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
Zielenski, J.4
Tsui, L.C.5
Antonarakis, S.E.6
-
8
-
-
0026773625
-
A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis
-
Claustres M., Gerrard B., White M.B., Desgeorges M., Kjellberg P., Rollin B., et al. A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis. Genomics 13 (1992) 907-908
-
(1992)
Genomics
, vol.13
, pp. 907-908
-
-
Claustres, M.1
Gerrard, B.2
White, M.B.3
Desgeorges, M.4
Kjellberg, P.5
Rollin, B.6
-
9
-
-
0025013961
-
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis
-
Vidaud M., Fanen P., Martin J., Ghanem N., Nicolas S., Goossens M., et al. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85 (1990) 446-449
-
(1990)
Hum Genet
, vol.85
, pp. 446-449
-
-
Vidaud, M.1
Fanen, P.2
Martin, J.3
Ghanem, N.4
Nicolas, S.5
Goossens, M.6
-
10
-
-
0034596493
-
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
-
Scotet V., de Braekeleer M., Roussey M., Rault G., Parent P., Dagorne M., et al. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 356 (2000) 789-794
-
(2000)
Lancet
, vol.356
, pp. 789-794
-
-
Scotet, V.1
de Braekeleer, M.2
Roussey, M.3
Rault, G.4
Parent, P.5
Dagorne, M.6
-
11
-
-
0036765885
-
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960
-
Scotet V., Gillet D., Duguépéroux I., Audrézet M.P., Bellis G., Garnier B., et al. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum Genet 111 (2002) 247-254
-
(2002)
Hum Genet
, vol.111
, pp. 247-254
-
-
Scotet, V.1
Gillet, D.2
Duguépéroux, I.3
Audrézet, M.P.4
Bellis, G.5
Garnier, B.6
-
12
-
-
17144451276
-
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
-
Scotet V., Barton D.E., Watson J.B., Audrézet M.P., McDevitt T., McQuaid S., et al. Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. Human Mutat 22 (2003) 105
-
(2003)
Human Mutat
, vol.22
, pp. 105
-
-
Scotet, V.1
Barton, D.E.2
Watson, J.B.3
Audrézet, M.P.4
McDevitt, T.5
McQuaid, S.6
-
13
-
-
0025341965
-
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
-
Serre J.L., Simon-Bouy B., Mornet E., Jaume-Roig B., Balassopoulou A., Schwartz M., et al. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics. Hum Genet 84 (1990) 449-454
-
(1990)
Hum Genet
, vol.84
, pp. 449-454
-
-
Serre, J.L.1
Simon-Bouy, B.2
Mornet, E.3
Jaume-Roig, B.4
Balassopoulou, A.5
Schwartz, M.6
-
14
-
-
0027326193
-
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers
-
Morral N., Nunes V., Casals T., Chillon M., Gimenez J., Bertranpetit J., et al. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum Mol Genet 2 (1993) 1015-1022
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1015-1022
-
-
Morral, N.1
Nunes, V.2
Casals, T.3
Chillon, M.4
Gimenez, J.5
Bertranpetit, J.6
-
15
-
-
0028229223
-
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
-
Morral N., Bertranpetit J., Estivill X., Nunes V., Casals T., Gimenez J., et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7 (1994) 169-175
-
(1994)
Nat Genet
, vol.7
, pp. 169-175
-
-
Morral, N.1
Bertranpetit, J.2
Estivill, X.3
Nunes, V.4
Casals, T.5
Gimenez, J.6
-
16
-
-
0028817201
-
Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients
-
Cashman S.M., Patino A., Martinez A., Garcia-Delgado M., Miedzybrodzka Z., Schwarz M., et al. Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Hum Hered 45 (1995) 6-12
-
(1995)
Hum Hered
, vol.45
, pp. 6-12
-
-
Cashman, S.M.1
Patino, A.2
Martinez, A.3
Garcia-Delgado, M.4
Miedzybrodzka, Z.5
Schwarz, M.6
-
17
-
-
2942726191
-
Estimating the age of rare disease mutations: the example of Triple-A syndrome
-
Génin E., Tullio-Pelet A., Begeot F., Lyonnet S., and Abel L. Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet 41 (2004) 445-449
-
(2004)
J Med Genet
, vol.41
, pp. 445-449
-
-
Génin, E.1
Tullio-Pelet, A.2
Begeot, F.3
Lyonnet, S.4
Abel, L.5
-
18
-
-
0036923986
-
Universal fluorescent labeling (UFL) method for automated microsatellite analysis
-
Shimizu M., Kosaka N., Shimada T., Nagahata T., Iwasaki H., Nagai H., et al. Universal fluorescent labeling (UFL) method for automated microsatellite analysis. DNA Res 9 (2002) 173-178
-
(2002)
DNA Res
, vol.9
, pp. 173-178
-
-
Shimizu, M.1
Kosaka, N.2
Shimada, T.3
Nagahata, T.4
Iwasaki, H.5
Nagai, H.6
-
19
-
-
0347093458
-
Methodology for using a universal primer to label amplified DNA segments for molecular analysis
-
Guo D.C., and Milewicz D.M. Methodology for using a universal primer to label amplified DNA segments for molecular analysis. Biotechnol Lett 25 (2003) 2079-2083
-
(2003)
Biotechnol Lett
, vol.25
, pp. 2079-2083
-
-
Guo, D.C.1
Milewicz, D.M.2
-
20
-
-
0029561071
-
A simplified procedure for developing multiplex PCRs
-
Shuber A.P., Grondin V.J., and Klinger K.W. A simplified procedure for developing multiplex PCRs. Genome Res 5 (1995) 488-493
-
(1995)
Genome Res
, vol.5
, pp. 488-493
-
-
Shuber, A.P.1
Grondin, V.J.2
Klinger, K.W.3
-
21
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M., Smith N.J., and Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68 (2001) 978-989
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
22
-
-
0242691208
-
A comparison of Bayesian methods for haplotype reconstruction from population genotype data
-
Stephens M., and Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73 (2003) 1162-1169
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
23
-
-
0029889526
-
Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany
-
De Braekeleer M., Chaventré A., Bertorelle G., Verlingue C., Raguénes O., Mercier B., et al. Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany. Hum Genet 98 (1996) 223-227
-
(1996)
Hum Genet
, vol.98
, pp. 223-227
-
-
De Braekeleer, M.1
Chaventré, A.2
Bertorelle, G.3
Verlingue, C.4
Raguénes, O.5
Mercier, B.6
-
24
-
-
0025801372
-
The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling
-
Shrimpton A.E., McIntosh I., and Brock D.J. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. J Med Genet 28 (1991) 317-321
-
(1991)
J Med Genet
, vol.28
, pp. 317-321
-
-
Shrimpton, A.E.1
McIntosh, I.2
Brock, D.J.3
-
25
-
-
0026802534
-
Mutation analysis of 184 cystic fibrosis families in Wales
-
Cheadle J., Myring J., al-Jader L., and Meredith L. Mutation analysis of 184 cystic fibrosis families in Wales. J Med Genet 29 (1992) 642-646
-
(1992)
J Med Genet
, vol.29
, pp. 642-646
-
-
Cheadle, J.1
Myring, J.2
al-Jader, L.3
Meredith, L.4
-
26
-
-
0029797823
-
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes
-
Hughes D.J., Hill A.J., Macek Jr. M., Redmond A.O., Nevin N.C., and Graham C.A. Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Human Mutat 8 (1996) 340-347
-
(1996)
Human Mutat
, vol.8
, pp. 340-347
-
-
Hughes, D.J.1
Hill, A.J.2
Macek Jr., M.3
Redmond, A.O.4
Nevin, N.C.5
Graham, C.A.6
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