-
1
-
-
0032435286
-
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
-
Bombieri C, Benetazzo MG, Saccomani A, Belpinati F, Gilè LS, Luisetti M, Pignatti PF (1998) Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 103:718-722
-
(1998)
Hum Genet
, vol.103
, pp. 718-722
-
-
Bombieri, C.1
Benetazzo, M.G.2
Saccomani, A.3
Belpinati, F.4
Gilè, L.S.5
Luisetti, M.6
Pignatti, P.F.7
-
2
-
-
0028902968
-
Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Easten Italy: Identification of 90% of the mutations
-
Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, et al (1994) Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Easten Italy: identification of 90% of the mutations. Hum Genet 95:397-402
-
(1994)
Hum Genet
, vol.95
, pp. 397-402
-
-
Bonizzato, A.1
Bisceglia, L.2
Marigo, C.3
Nicolis, E.4
Bombieri, C.5
Castellani, C.6
Borgo, G.7
-
3
-
-
85017225365
-
-
CFGAC website
-
CFGAC website: http://www.genet.sickkids.on.ca/cftr
-
-
-
-
4
-
-
0028265345
-
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G/A, and 3667de14)
-
Chillon M, Casals T Gimenez J, Nunes V, Estivill X (1994) Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G/A, and 3667de14). Hum Mutat 3:2323-2330
-
(1994)
Hum Mutat
, vol.3
, pp. 2323-2330
-
-
Chillon, M.1
Casals, T.2
Gimenez, J.3
Nunes, V.4
Estivill, X.5
-
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, et al (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 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
-
6
-
-
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, Glansily M, Culard J-F, Razakatsara G, Demaille J (1993) 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 2:1209-1213
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1209-1213
-
-
Claustres, M.1
Laussel, M.2
Desgeorges, M.3
Glansily, M.4
Culard, J.-F.5
Razakatsara, G.6
Demaille, J.7
-
7
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 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
-
8
-
-
0027325822
-
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
-
Costes B, Fanen P, Goossens M, Ghanem N (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 2:185-191
-
(1993)
Hum Mutat
, vol.2
, pp. 185-191
-
-
Costes, B.1
Fanen, P.2
Goossens, M.3
Ghanem, N.4
-
9
-
-
0029928789
-
Complexity in a monogenic disease
-
Estivill X (1996) Complexity in a monogenic disease. Nat Genet 12:348-350
-
(1996)
Nat Genet
, vol.12
, pp. 348-350
-
-
Estivill, X.1
-
10
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
Estivill X, Bancells C, Ramos C, the Biomed CF Mutation Analysis Consortium (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 10:135-154
-
(1997)
Hum Mutat
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
11
-
-
0026780584
-
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
-
Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 12:770-776
-
(1992)
Genomics
, vol.12
, pp. 770-776
-
-
Fanen, P.1
Ghanem, N.2
Vidaud, M.3
Besmond, C.4
Martin, J.5
Costes, B.6
Plassa, F.7
Goossens, M.8
-
12
-
-
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 (1992) 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 6:1-7
-
(1992)
Mol Cell Probes
, vol.6
, pp. 1-7
-
-
Gasparini, P.1
Bonizzato, A.2
Dognini, M.3
Pignatti, P.F.4
-
13
-
-
12644300645
-
CFTR gene mutations in adults with disseminated bronchiectasis
-
Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M (1997) CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet, 5:149-155
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 149-155
-
-
Girodon, E.1
Cazeneuve, C.2
Lebargy, F.3
Chinet, T.4
Costes, B.5
Ghanem, N.6
Martin, J.7
Lemay, S.8
Scheid, P.9
Housset, B.10
Bignon, J.11
Goossens, M.12
-
14
-
-
16944363988
-
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
-
Macek M, Mercier B, Mackovà A, Weiner Miller P, Hamosh A, Férec C, Cutting GR (1997) Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 9:136-147
-
(1997)
Hum Mutat
, vol.9
, pp. 136-147
-
-
Macek, M.1
Mercier, B.2
Mackovà, A.3
Weiner Miller, P.4
Hamosh, A.5
Férec, C.6
Cutting, G.R.7
-
15
-
-
0028958565
-
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
-
Pignatti PF, Bombieri C, Marigo C, Benetazzo MG, Luisetti M (1995) Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 4:635-639
-
(1995)
Hum Mol Genet
, vol.4
, pp. 635-639
-
-
Pignatti, P.F.1
Bombieri, C.2
Marigo, C.3
Benetazzo, M.G.4
Luisetti, M.5
-
16
-
-
0031446288
-
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
-
Rendine S, Calafell F, Capello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, et al (1997) Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution. Ann Hum Genet 61:411-424
-
(1997)
Ann Hum Genet
, vol.61
, pp. 411-424
-
-
Rendine, S.1
Calafell, F.2
Capello, N.3
Gagliardini, R.4
Caramia, G.5
Rigillo, N.6
Silvetti, M.7
-
17
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer N, Schwatz M, Malone G, Howarth A, Painter J, Super M, Braganza J (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 339:645-652
-
(1998)
N Engl J Med
, vol.339
, pp. 645-652
-
-
Sharer, N.1
Schwatz, M.2
Malone, G.3
Howarth, A.4
Painter, J.5
Super, M.6
Braganza, J.7
-
18
-
-
0343492367
-
Rapid characterization of both the variable length 5, 7, or 9 polythimidine (T) tract in intron 8 and the adjacent CA repeat unit of the CFTR gene: Use in DNA diagnostics
-
Strasberg PM, Friedman KJ, McGlynn-Steele L, Zielenski J, Ray PN (1997) Rapid characterization of both the variable length 5, 7, or 9 polythimidine (T) tract in intron 8 and the adjacent CA repeat unit of the CFTR gene: use in DNA diagnostics. Am J Hum Genet Suppl 61: no. 4
-
(1997)
Am J Hum Genet Suppl
, vol.61
, Issue.4
-
-
Strasberg, P.M.1
Friedman, K.J.2
McGlynn-Steele, L.3
Zielenski, J.4
Ray, P.N.5
-
19
-
-
0026864933
-
Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
-
Tucker SJ, Tannahill D, Higgins CF (1992) Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 1:77-82
-
(1992)
Hum Mol Genet
, vol.1
, pp. 77-82
-
-
Tucker, S.J.1
Tannahill, D.2
Higgins, C.F.3
|