-
1
-
-
18744432074
-
Polyvariant mutant CFTR genes in patients with chronic pancreatitis
-
Arduino C, Gallo M, Brusco A, Garnerone S, Piana MR, Di Maggio S, Gerbino Promis G, Ferrone M, Angeli A, Gaia E. 1999. Polyvariant mutant CFTR genes in patients with chronic pancreatitis. Clin Genet 56:400-404.
-
(1999)
Clin Genet
, vol.56
, pp. 400-404
-
-
Arduino, C.1
Gallo, M.2
Brusco, A.3
Garnerone, S.4
Piana, M.R.5
Di Maggio, S.6
Gerbino Promis, G.7
Ferrone, M.8
Angeli, A.9
Gaia, E.10
-
3
-
-
0032435286
-
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
-
Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile 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.2
Saccomani, A.3
Belpinati, F.4
Gile, L.S.5
Luisetti, M.6
Pignatti, P.F.7
-
4
-
-
0033803792
-
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
-
Casals T, Bassas L, Egozcue S, Ramos MD, Gimenez J, Segura A, Garciaa F, Carrera M, Larriba S, Sarquella J, Estivill X. 2000. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 15:1476-1483.
-
(2000)
Hum Reprod
, vol.15
, pp. 1476-1483
-
-
Casals, T.1
Bassas, L.2
Egozcue, S.3
Ramos, M.D.4
Gimenez, J.5
Segura, A.6
Garciaa, F.7
Carrera, M.8
Larriba, S.9
Sarquella, J.10
Estivill, X.11
-
5
-
-
2942731805
-
Bronchiestasis in adult patients: An expression of heterozygosis for CFTR gene mutations?
-
Casals T, De-Gracia J, Gallego M, Dorca J, Rodriguez-Sanchon B, Ramos MD, Gimenez J, Cistero-Bahima A, Olveira C, Estivill X. 2004. Bronchiestasis in adult patients: An expression of heterozygosis for CFTR gene mutations?. Clin Genet 65:490-495.
-
(2004)
Clin Genet
, vol.65
, pp. 490-495
-
-
Casals, T.1
De-Gracia, J.2
Gallego, M.3
Dorca, J.4
Rodriguez-Sanchon, B.5
Ramos, M.D.6
Gimenez, J.7
Cistero-Bahima, A.8
Olveira, C.9
Estivill, X.10
-
6
-
-
0029025333
-
Mutation in the cystic fibrosis gene in patients with CBAVD
-
Chillón M, Casals T, Mercier B, Bassas LI, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verligue C, Claustres M, Nunes V, Ferec C, Estivill X. 1995. Mutation in the cystic fibrosis gene in patients with CBAVD. N Engl J Med 332:1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillón, M.1
Casals, T.2
Mercier, B.3
Bassas, L.I.4
Lissens, W.5
Silber, S.6
Romey, M.C.7
Ruiz-Romero, J.8
Verligue, C.9
Claustres, M.10
Nunes, V.11
Ferec, C.12
Estivill, X.13
-
7
-
-
0027502580
-
Genetic basic of variable exon 9 skipping in cystic fibrosis transmembrance conductance regulator mRNA
-
Chu CS, Chapnell BC, Curristin S, Cutting GR, Crystal RG. 1993. Genetic basic of variable exon 9 skipping in cystic fibrosis transmembrance conductance regulator mRNA. Nat Genet 3:151-156.
-
(1993)
Nat Genet
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Chapnell, B.C.2
Curristin, S.3
Cutting, G.R.4
Crystal, R.G.5
-
8
-
-
0028196665
-
CFTR haplotype backgrounds on normal and mutant CFTR genes
-
Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ. 1994. CFTR haplotype backgrounds on normal and mutant CFTR genes. Hum Mol Genet 3:607-614.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 607-614
-
-
Cuppens, H.1
Teng, H.2
Raeymaekers, P.3
De Boeck, C.4
Cassiman, J.J.5
-
9
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ. 1998. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 101:487-496.
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
Costes, B.4
Teng, H.5
Vankeerberghen, A.6
Jorissen, M.7
Droogmans, G.8
Reynaert, I.9
Goossens, M.10
Nilius, B.11
Cassiman, J.J.12
-
10
-
-
0035406227
-
Recent advances in cystic fibrosis
-
Doull IJM. 2001. Recent advances in cystic fibrosis. Arch Dis Child 85:62-66.
-
(2001)
Arch Dis Child
, vol.85
, pp. 62-66
-
-
Doull, I.J.M.1
-
11
-
-
3042720633
-
Genetic evidence for CFTR dysfunction in Japanese: Background for chronic pancreatitis
-
Fujiki K, Ishiguro H, Ko SBH, Mizuno N, Suzuki Y, Takemura T, Yamamoto A, Yoshikawa T, Kitagawa M, Hayakawa T, Saito M, Kondo T, Naruse S. 2004. Genetic evidence for CFTR dysfunction in Japanese: Background for chronic pancreatitis. J Med Genet 41: e55.
-
(2004)
J Med Genet
, vol.41
-
-
Fujiki, K.1
Ishiguro, H.2
Ko, S.B.H.3
Mizuno, N.4
Suzuki, Y.5
Takemura, T.6
Yamamoto, A.7
Yoshikawa, T.8
Kitagawa, M.9
Hayakawa, T.10
Saito, M.11
Kondo, T.12
Naruse, S.13
-
12
-
-
9144235448
-
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
-
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis M, Tzetis M, Shwartz M, Novelli G, D'Apice MR, Tomaszewska AS, Bal J, Stuhrmann M, Macek M, Claustres M, Cutting GR. 2004. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 74:176-179.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
Bassas, L.4
Estivill, X.5
Des Georges, M.6
Guittard, C.7
Koudova, M.8
Fallin, M.D.9
Nemeth, K.10
Fekete, G.11
Kadasi, L.12
Friedman, K.13
Schwarz, M.14
Bombieri, C.15
Pignatti, P.F.16
Kanavakis, M.17
Tzetis, M.18
Shwartz, M.19
Novelli, G.20
D'Apice, M.R.21
Tomaszewska, A.S.22
Bal, J.23
Stuhrmann, M.24
Macek, M.25
Claustres, M.26
Cutting, G.R.27
more..
-
13
-
-
0036956227
-
Gene-based SNP discovery as part of the Japanese millennium Genome Project: Identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism
-
Haga H, Yamada R, Ohnishi Y, Nakamura Y, Tanaka T. 2002. Gene-based SNP discovery as part of the Japanese millennium Genome Project: Identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J Hum Genet 47:605-610.
-
(2002)
J Hum Genet
, vol.47
, pp. 605-610
-
-
Haga, H.1
Yamada, R.2
Ohnishi, Y.3
Nakamura, Y.4
Tanaka, T.5
-
14
-
-
10744226098
-
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases
-
Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, Park SW, Kim DS, Yoon JH, Suh Y, Jang IJ, Nam JH, Kim SJ, Cho MO, Lee JE, Kim KH, Lee MG. 2003. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 15:2321-2332.
-
(2003)
Hum Mol Genet
, vol.15
, pp. 2321-2332
-
-
Lee, J.H.1
Choi, J.H.2
Namkung, W.3
Hanrahan, J.W.4
Chang, J.5
Song, S.Y.6
Park, S.W.7
Kim, D.S.8
Yoon, J.H.9
Suh, Y.10
Jang, I.J.11
Nam, J.H.12
Kim, S.J.13
Cho, M.O.14
Lee, J.E.15
Kim, K.H.16
Lee, M.G.17
-
15
-
-
0036186388
-
Simultaneous cycle sequencing assessment of (TG)m and Tn tract length in CFTR gene
-
Lucarelli M, Grandoni F, Rossi T, Mazzilli F, Antonelli M, Strom R. 2002. Simultaneous cycle sequencing assessment of (TG)m and Tn tract length in CFTR gene. Biotechiques 32:540-542; 544-547.
-
(2002)
Biotechiques
, vol.32
, pp. 540-542
-
-
Lucarelli, M.1
Grandoni, F.2
Rossi, T.3
Mazzilli, F.4
Antonelli, M.5
Strom, R.6
-
16
-
-
0035094282
-
Frequency of CFTR gene mutations and T5 allele in patients with allergic bronchopulmonary aspergillosis
-
Marchand E, Dumoulin CV, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O. 2001. Frequency of CFTR gene mutations and T5 allele in patients with allergic bronchopulmonary aspergillosis. Chest 119:762-767.
-
(2001)
Chest
, vol.119
, pp. 762-767
-
-
Marchand, E.1
Dumoulin, C.V.2
Mairesse, M.3
Delaunois, L.4
Brancaleone, P.5
Rahier, J.F.6
Vandenplas, O.7
-
17
-
-
0033724681
-
Lung disease associated with the IVS8 5T allele of the CFTA gene
-
Noone PG, Charles AP, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon R, Silverman LM, Knowless MR. 2000. Lung disease associated with the IVS8 5T allele of the CFTA gene. Am J Respir Crit Care Med 162:1919-1924.
-
(2000)
Am J Respir Crit Care Med
, vol.162
, pp. 1919-1924
-
-
Noone, P.G.1
Charles, A.P.2
Zhou, Z.3
Friedman, K.J.4
Wakeling, E.L.5
Ganeshananthan, M.6
Simon, R.7
Silverman, L.M.8
Knowless, M.R.9
-
18
-
-
0029960243
-
CFTR gene variant IVS8-TS in disseminated bronchiestasis
-
Pignatti PF, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gile LS, Martinati LC, Boner AL, Luisetti M. 1996. CFTR gene variant IVS8-TS in disseminated bronchiestasis. Am J Hum Genet 58:889-892.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 889-892
-
-
Pignatti, P.F.1
Bombieri, C.2
Benetazzo, M.3
Casartelli, A.4
Trabetti, E.5
Gile, L.S.6
Martinati, L.C.7
Boner, A.L.8
Luisetti, M.9
-
19
-
-
0032759617
-
Complete mutational screening of the cystic fibrosis transmembrance conductance regulator gene: Cystic fibrosis mutations are not involved in healthy men with reduced sperm quality
-
Ruiz NP, Carles S, Georges MD, Guittard C, Arnal F, Humeau C, Claustres M. 1999. Complete mutational screening of the cystic fibrosis transmembrance conductance regulator gene: Cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Hum Reprod 14:3035-3040.
-
(1999)
Hum Reprod
, vol.14
, pp. 3035-3040
-
-
Ruiz, N.P.1
Carles, S.2
Georges, M.D.3
Guittard, C.4
Arnal, F.5
Humeau, C.6
Claustres, M.7
-
21
-
-
0242691208
-
A comparison of Beyesian methods for haplotype reconstruction from population genotype data
-
Stephens M, Donelly P. 2003. A comparison of Beyesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donelly, P.2
-
22
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M, Smith NJ, Donnelly P. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
23
-
-
0035070082
-
CFTR gene mutations including three novel nucleotide substitutions and haplotype background in patients with asthma, disseminated bronchiestasis and chronic obstructive pulmonary disease
-
Tzetis M, Efthymiaduo A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E. 2001. CFTR gene mutations including three novel nucleotide substitutions and haplotype background in patients with asthma, disseminated bronchiestasis and chronic obstructive pulmonary disease. Hum Genet 108:216-221.
-
(2001)
Hum Genet
, vol.108
, pp. 216-221
-
-
Tzetis, M.1
Efthymiaduo, A.2
Strofalis, S.3
Psychou, P.4
Dimakou, A.5
Pouliou, E.6
Doudounakis, S.7
Kanavakis, E.8
-
25
-
-
1242318768
-
Cystic fibrosis transmembrance regulator gene screening and clinical correlation in Taiwanese males with CBAVD
-
Wu CC, Hsieh-Li HM, Lin YM, Chiang HS. 2004. Cystic fibrosis transmembrance regulator gene screening and clinical correlation in Taiwanese males with CBAVD. Hum Reprod 19:250-253.
-
(2004)
Hum Reprod
, vol.19
, pp. 250-253
-
-
Wu, C.C.1
Hsieh-Li, H.M.2
Lin, Y.M.3
Chiang, H.S.4
|