-
1
-
-
0026699908
-
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
-
Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51:951-956
-
(1992)
Am J Hum Genet
, vol.51
, pp. 951-956
-
-
Abeliovich, D.1
Lavon, I.P.2
Lerer, I.3
Cohen, T.4
Springer, C.5
Avital, A.6
Cutting, G.R.7
-
2
-
-
0036258208
-
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
-
Bobadilla JL, et al (2002) Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening. Hum Mutat 19:575-606
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
-
3
-
-
0017848528
-
Cluster of cystic fibrosis cases in a limited area of Britanny (France)
-
Bois E, Feingold J, Demenais F, Runavot Y, Jehanne M, Toudic L (1978) Cluster of cystic fibrosis cases in a limited area of Britanny (France). Clin Genet 14:73-76
-
(1978)
Clin Genet
, vol.14
, pp. 73-76
-
-
Bois, E.1
Feingold, J.2
Demenais, F.3
Runavot, Y.4
Jehanne, M.5
Toudic, L.6
-
4
-
-
0028817201
-
Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients
-
Cashman SM, Patino A, Martinez A, Garcia-Delgado M, Miedzybrodzka Z, Schwarz M, Shrimpton A, Férec C, Reguénés O, Macek MJ (1995) Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Hum Hered 45:6-12
-
(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
Shrimpton, A.7
Férec, C.8
Reguénés, O.9
Macek, M.J.10
-
5
-
-
0027379755
-
Direct sequencing of the complete CFTR gene: The molecular characterization of 99.5% of CF chromosomes in Wales
-
Cheadle JP, Goodchild MC, Meredith AL (1993) Direct sequencing of the complete CFTR gene: The molecular characterization of 99.5% of CF chromosomes in Wales. Hum Mol Genet 2:1551-1556
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1551-1556
-
-
Cheadle, J.P.1
Goodchild, M.C.2
Meredith, A.L.3
-
6
-
-
0033860259
-
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
-
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Férec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Des Georges M (2000) Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 16:143-156
-
(2000)
Hum Mutat
, vol.16
, pp. 143-156
-
-
Claustres, M.1
Guittard, C.2
Bozon, D.3
Chevalier, F.4
Verlingue, C.5
Férec, C.6
Girodon, E.7
Cazeneuve, C.8
Bienvenu, T.9
Lalau, G.10
Dumur, V.11
Feldmann, D.12
Bieth, E.13
Blayau, M.14
Clavel, C.15
Creveaux, I.16
Malinge, M.C.17
Monnier, N.18
Malzac, P.19
Mittre, H.20
Chomel, J.C.21
Bonnefont, J.P.22
Iron, A.23
Chery, M.24
Des Georges, M.25
more..
-
8
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mut 4:167-177
-
(1994)
Hum Mut
, vol.4
, pp. 167-177
-
-
-
9
-
-
0026009924
-
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada)
-
Daigneault J, Aubin G, Simard F, De Braekeleer M (1991) Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Clin Genet 40:298-303
-
(1991)
Clin Genet
, vol.40
, pp. 298-303
-
-
Daigneault, J.1
Aubin, G.2
Simard, F.3
De Braekeleer, M.4
-
10
-
-
0012455921
-
Observatoire national de la mucoviscidose (ONM): Structure de l'observatoire et résultats de l'enquête 1999
-
De Braekeleer M, Bellis G (2001) Observatoire national de la mucoviscidose (ONM): Structure de l'observatoire et résultats de l'enquête 1999. Référence Mucoviscidose 6:42-48
-
(2001)
Référence Mucoviscidose
, vol.6
, pp. 42-48
-
-
De Braekeleer, M.1
Bellis, G.2
-
11
-
-
0031950633
-
Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint Jean (Quebec, Canada)
-
De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Férec C (1998) Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint Jean (Quebec, Canada). Clin Genet 53:44-46
-
(1998)
Clin Genet
, vol.53
, pp. 44-46
-
-
De Braekeleer, M.1
Mari, C.2
Verlingue, C.3
Allard, C.4
Leblanc, J.P.5
Simard, F.6
Aubin, G.7
Férec, C.8
-
12
-
-
0032414799
-
Les bases moléculaires de la mucoviscidose en France: Plus de 300 mutations et 506 génotypes différents sont en cause
-
Des Georges M, Guittard C, Bozon D, Chevalier F, Verlingue C, Férec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Bonnefont JP, Iron A, Chomel JC, Chery M, Claustres M (1998) Les bases moléculaires de la mucoviscidose en France: Plus de 300 mutations et 506 génotypes différents sont en cause. Méd Sci 14:1413-1421
-
(1998)
Méd Sci
, vol.14
, pp. 1413-1421
-
-
Des Georges, M.1
Guittard, C.2
Bozon, D.3
Chevalier, F.4
Verlingue, C.5
Férec, C.6
Girodon, E.7
Cazeneuve, C.8
Bienvenu, T.9
Lalau, G.10
Dumur, V.11
Feldmann, D.12
Bieth, E.13
Blayau, M.14
Clavel, C.15
Creveaux, I.16
Malinge, M.C.17
Monnier, N.18
Malzac, P.19
Mittre, H.20
Bonnefont, J.P.21
Iron, A.22
Chomel, J.C.23
Chery, M.24
Claustres, M.25
more..
-
13
-
-
0018751542
-
Fréquence de la fibrose kystique en Bretagne
-
Demenais F, Feingold J, Bois E, Jehanne M, Toudic L, Hennequet A (1979) Fréquence de la fibrose kystique en Bretagne. Rev Epidemiol Sante Publique 27:5-15
-
(1979)
Rev Epidemiol Sante Publique
, vol.27
, pp. 5-15
-
-
Demenais, F.1
Feingold, J.2
Bois, E.3
Jehanne, M.4
Toudic, L.5
Hennequet, A.6
-
14
-
-
84920211040
-
Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas
-
Di Sant'Agnese PA, Darling RC, Perera GA, Shea E (1953) Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics 12:549-563
-
(1953)
Pediatrics
, vol.12
, pp. 549-563
-
-
Di Sant'Agnese, P.A.1
Darling, R.C.2
Perera, G.A.3
Shea, E.4
-
15
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
16
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Biomed CF Mutation Analysis Consortium
-
Estivill X, Bancells C, Ramos C (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Biomed CF Mutation Analysis Consortium. Hum Mutat 10:135-154
-
(1997)
Hum Mutat
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
17
-
-
0016199390
-
Incidence of pancreatic cystic fibrosis in France
-
Feingold J, Hennequet A, Jehanne M, Feigelson J, Toudic L, Quiniou O, Briard ML (1974) Incidence of pancreatic cystic fibrosis in France. Ann Génét (Paris) 17:257-259
-
(1974)
Ann Génét (Paris)
, vol.17
, pp. 257-259
-
-
Feingold, J.1
Hennequet, A.2
Jehanne, M.3
Feigelson, J.4
Toudic, L.5
Quiniou, O.6
Briard, M.L.7
-
18
-
-
0026878879
-
Detection of over 98% cystic fibrosis mutations in a Celtic population
-
Férec C., Audrézet MP, Mercier B, Guillermit H, Moullier P, Quéré I, Verlingue C (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1:188-191
-
(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
Verlingue, C.7
-
19
-
-
0028849220
-
Neonatal screening for cystic fibrosis: Result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutations analyses
-
Férec C, Verlingue C, Parent P, Morin JF, Codet JP, Rault G, Dagorne M, Lemoigne A, Journel H, Roussey M, Le Marec B, Catheline M, Audrézet MP, Mercier B (1995) Neonatal screening for cystic fibrosis: Result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutations analyses. Hum Genet 96:542-548
-
(1995)
Hum Genet
, vol.96
, pp. 542-548
-
-
Férec, C.1
Verlingue, C.2
Parent, P.3
Morin, J.F.4
Codet, J.P.5
Rault, G.6
Dagorne, M.7
Lemoigne, A.8
Journel, H.9
Roussey, M.10
Le Marec, B.11
Catheline, M.12
Audrézet, M.P.13
Mercier, B.14
-
20
-
-
0027175323
-
Cystic fibrosis identified by neonatal screening: Incidence, genotype, and early natural history
-
Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, McMahon R, Payne SJ, Austin S, Yates JRW, Davis JA (1993) Cystic fibrosis identified by neonatal screening: Incidence, genotype, and early natural history. Arch Dis Child 68:464-467
-
(1993)
Arch Dis Child
, vol.68
, pp. 464-467
-
-
Green, M.R.1
Weaver, L.T.2
Heeley, A.F.3
Nicholson, K.4
Kuzemko, J.A.5
Barton, D.E.6
McMahon, R.7
Payne, S.J.8
Austin, S.9
Yates, J.R.W.10
Davis, J.A.11
-
21
-
-
0024405403
-
Cystic fibrosis in Finland: A molecular and genealogical study
-
Kere J, Norio R, Savilahti E, Estivill X, Chapelle A de la (1989) Cystic fibrosis in Finland: A molecular and genealogical study. Hum Genet 83:20-25
-
(1989)
Hum Genet
, vol.83
, pp. 20-25
-
-
Kere, J.1
Norio, R.2
Savilahti, E.3
Estivill, X.4
De La Chapelle, A.5
-
22
-
-
0028013685
-
Cystic fibrosis in a low-incidence population: Two major mutations in Finland
-
Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, Chapelle A de la (1994) Cystic fibrosis in a low-incidence population: Two major mutations in Finland. Hum Genet 93:162-166
-
(1994)
Hum Genet
, vol.93
, pp. 162-166
-
-
Kere, J.1
Estivill, X.2
Chillon, M.3
Morral, N.4
Nunes, V.5
Norio, R.6
Savilahti, E.7
De La Chapelle, A.8
-
23
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.C.8
-
24
-
-
0021080894
-
Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect
-
Klinger KW (1983) Cystic fibrosis in the Ohio Amish: Gene frequency and founder effect. Hum Genet 65:94-98
-
(1983)
Hum Genet
, vol.65
, pp. 94-98
-
-
Klinger, K.W.1
-
25
-
-
0035020939
-
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromotography (D-HPLC): Major implications for genetic counseling
-
Le Maréchal C, Audrézet MP, Raguénès O, Quéré I, Langonné S, Férec C (2001) Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromotography (D-HPLC): Major implications for genetic counseling. Hum Genet 108:290-298
-
(2001)
Hum Genet
, vol.108
, pp. 290-298
-
-
Le Maréchal, C.1
Audrézet, M.P.2
Raguénès, O.3
Quéré, I.4
Langonné, S.5
Férec, C.6
-
26
-
-
0031949654
-
Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (317SdelAC, P1013L and M1028I)
-
Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B (1998) Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (317SdelAC, P1013L and M1028I). Hum Genet 102:224-230
-
(1998)
Hum Genet
, vol.102
, pp. 224-230
-
-
Onay, T.1
Topaloglu, O.2
Zielenski, J.3
Gokgoz, N.4
Kayserili, H.5
Camcioglu, Y.6
Cokugras, H.7
Akcakaya, N.8
Apak, M.9
Tsui, L.C.10
Kirdar, B.11
-
27
-
-
0035680324
-
The HUGO Gene Nomenclature Committee (HGNC)
-
Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
-
(2001)
Hum Genet
, vol.109
, pp. 678-680
-
-
Povey, S.1
Lovering, R.2
Bruford, E.3
Wright, M.4
Lush, M.5
Wain, H.6
-
28
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC (1989) Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066-1073
-
(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
Zielenski, J.7
Lok, S.8
Plavsic, N.9
Chou, J.L.10
Drumm, M.L.11
Iannuzzi, M.C.12
Collins, F.S.13
Tsui, L.C.14
-
29
-
-
0024453308
-
Identificatin of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS (1989) Identificatin of the cystic fibrosis gene: Chromosome walking and jumping. Science 245:1059-1065
-
(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
Rozmahel, R.7
Cole, J.L.8
Kennedy, D.9
Hidaka, N.10
Zsiga, M.11
Buchwald, M.12
Riordan, J.R.13
Tsui, L.C.14
Collins, F.S.15
-
30
-
-
0031900652
-
The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
-
Rosenstein BJ, Cutting GR (1998) The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132:589-595
-
(1998)
J Pediatr
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
31
-
-
0029027283
-
High incidence of cystic fibrosis on the Faroe Islands: A molecular and genealogical study
-
Schwartz M, Sorensen N, Brandt NJ, Hogdall E, Holm T (1995) High incidence of cystic fibrosis on the Faroe Islands: A molecular and genealogical study. Hum Genet 95:703-706
-
(1995)
Hum Genet
, vol.95
, pp. 703-706
-
-
Schwartz, M.1
Sorensen, N.2
Brandt, N.J.3
Hogdall, E.4
Holm, T.5
-
32
-
-
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, Journel H, Lemoigne A, Codet JP, Catheline M, David V, Chaventré A, Duguépéroux I, Verlingue C, Quéré I, Mercier B, Audrézet MP, Férec C (2000) Neonatal screening for cystic fibrosis in Brittany, France: Assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 356:789-794
-
(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
Journel, H.7
Lemoigne, A.8
Codet, J.P.9
Catheline, M.10
David, V.11
Chaventré, A.12
Duguépéroux, I.13
Verlingue, C.14
Quéré, I.15
Mercier, B.16
Audrézet, M.P.17
Férec, C.18
-
34
-
-
0000026508
-
Cystic fibrosis
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); McGraw Hill, New York
-
Welsh MJ, Tsui LC, Boat TF, Beaudet AL (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Diseases, 7th edn. McGraw Hill, New York, pp 3799-3876
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases, 7th edn.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.C.2
Boat, T.F.3
Beaudet, A.L.4
|