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Results: 1-6 |
Results: 6

Authors: Amaral, MD Pacheco, P Beck, S Farinha, CM Penque, D Nogueira, P Barreto, C Lopes, B Casals, T Dapena, J Gartner, S Vasquez, C Perez-Frias, J Olveira, C Cabanas, R Estivill, X Tzetis, M Kanavakis, E Doudounakis, S Dork, T Tummler, B Girodon-Boulandet, E Cazeneuve, C Goossens, M Blayau, M Verlingue, C Vieira, I Ferec, C Claustres, M des Georges, M Clavel, C Birembaut, P Hubert, D Bienvenu, T Adoun, M Chomel, JC De Boeck, K Cuppens, H Lavinha, J
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782

Authors: Scotet, V De Braekeleer, M Audrezet, MP Lode, L Verlingue, C Quere, I Mercier, B Dugueperoux, I Codet, JP Moineau, MP Parent, P Ferec, C
Citation: V. Scotet et al., Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis, CLIN GENET, 59(1), 2001, pp. 42-47

Authors: Claustres, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, 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
Citation: M. Claustres et al., Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France, HUM MUTAT, 16(2), 2000, pp. 143-156

Authors: Dork, T Macek, M Mekus, F Tummler, B Tzountzouris, J Casals, T Krebsova, A Koudova, M Sakmaryova, I Macek, M Vavrova, V Zemkova, D Ginter, E Petrova, NV Ivaschenko, T Baranov, V Witt, M Pogorzelski, A Bal, J Zekanowsky, C Wagner, K Stuhrmann, M Bauer, I Seydewitz, HH Neumann, T Jakubiczka, S Kraus, C Thamm, B Nechiporenko, M Livshits, L Mosse, N Tsukerman, G Kadasi, L Ravnik-Glavac, M Glavac, D Komel, R Vouk, K Kucinskas, V Krumina, A Teder, M Kocheva, S Efremov, GD Onay, T Kirdar, B Malone, G Schwarz, M Zhou, ZQ Friedman, KJ Carles, S Claustres, M Bozon, D Verlingue, C Ferec, C Tzetis, M Kanavakis, E Cuppens, H Bombieri, C Pignatti, PF Sangiuolo, F Jordanova, A Kusic, J Radojkovic, D Sertic, J Richter, D Rukavina, AS Bjorck, E Strandvik, B Cardoso, H Montgomery, M Nakielna, B Hughes, D Estivill, X Aznarez, I Tullis, E Tsui, LC Zielenski, J
Citation: T. Dork et al., Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe, HUM GENET, 106(3), 2000, pp. 259-268

Authors: Scotet, V de Braekeleer, M Roussey, M Rault, G Parent, P Dagorne, M Journel, H Lemoigne, A Codet, JP Catheline, M David, V Chaventre, A Dugueperoux, I Verlingue, C Quere, I Mercier, B Audrezet, MP Ferec, C
Citation: V. Scotet et al., Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis, LANCET, 356(9232), 2000, pp. 789-794

Authors: Des Georges, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, 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
Citation: M. Des Georges et al., Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved, M S-MED SCI, 14(12), 1998, pp. 1413-1421
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