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Results: 1-13 |
Results: 13
European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations
Authors: Koch, C Cuppens, H Rainisio, M Madessani, U Harms, HK Hodson, ME Mastella, G Navarro, J Strandvik, B McKenzie, SG
Citation: C. Koch et al., European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations, PEDIAT PULM, 31(1), 2001, pp. 1-12
The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca2+-activated Cl- channels
Authors: Wei, L Vankeerberghen, A Cuppens, H Cassiman, JJ Droogmans, G Nilius, B
Citation: L. Wei et al., The C-terminal part of the R-domain, but not the PDZ binding motif, of CFTR is involved in interaction with Ca2+-activated Cl- channels, PFLUG ARCH, 442(2), 2001, pp. 280-285
Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study
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
Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, Delta F508 andknock-out CFTR mice during postnatal life
Authors: Reynaert, I Van der Schueren, B Degeest, G Manin, M Cuppens, H Scholte, B Cassiman, JJ
Citation: I. Reynaert et al., Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, Delta F508 andknock-out CFTR mice during postnatal life, MOL REPROD, 55(2), 2000, pp. 125-135
Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis
Authors: Dequeker, E Cuppens, H Dodge, J Estivill, X Goossens, M Pignatti, PF Scheffer, H Schwartz, M Schwarz, M Tummler, B Cassiman, JJ
Citation: E. Dequeker et al., Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis, EUR J HUM G, 8, 2000, pp. S2-S24
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
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
Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
Authors: Wei, L Vankeerberghen, A Jaspers, M Cassiman, JJ Nilius, B Cuppens, H
Citation: L. Wei et al., Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR, FEBS LETTER, 473(2), 2000, pp. 149-153
Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis
Authors: Jorissen, MB de Boeck, K Cuppens, H
Citation: Mb. Jorissen et al., Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis, AM J R CRIT, 159(5), 1999, pp. 1412-1416
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
Authors: Marie, S Cuppens, H Heuterspreute, M Jaspers, M Tola, EZ Gu, XX Legius, E Vincent, MF Jaeken, J Cassiman, JJ Van den Berghe, G
Citation: S. Marie et al., Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence, HUM MUTAT, 13(3), 1999, pp. 197-202
Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator
Authors: Wei, L Vankeerberghen, A Cuppens, H Eggermont, J Cassiman, JJ Droogmans, G Nilius, B
Citation: L. Wei et al., Interaction between calcium-activated chloride channels and the cystic fibrosis transmembrane conductance regulator, PFLUG ARCH, 438(5), 1999, pp. 635-641
Capacitance measurements reveal different pathways for the activation of CFTR
Authors: Weber, WM Cuppens, H Cassiman, JJ Clauss, W Van Driessche, W
Citation: Wm. Weber et al., Capacitance measurements reveal different pathways for the activation of CFTR, PFLUG ARCH, 438(4), 1999, pp. 561-569
Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator
Authors: Vennekens, R Trouet, D Vankeerberghen, A Voets, T Cuppens, H Eggermont, J Cassiman, JJ Droogmans, G Nilius, B
Citation: R. Vennekens et al., Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator, J PHYSL LON, 515(1), 1999, pp. 75-85
Functional characterization of the CFTR R domain using CFTR/MDR1 hybrid and deletion constructs
Authors: Vankeerberghen, A Lin, W Jaspers, M Cuppens, H Nilius, B Cassiman, JJ
Citation: A. Vankeerberghen et al., Functional characterization of the CFTR R domain using CFTR/MDR1 hybrid and deletion constructs, BIOCHEM, 38(45), 1999, pp. 14988-14998
Risultati: 1-13 |