AAAAAA

   
Results: 1-7 |
Results: 7
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study
Authors: Bombieri, C Luisetti, M Belpinati, F Zuliani, E Beretta, A Baccheschi, J Casali, L Pignatti, PF
Citation: C. Bombieri et al., Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study, EUR J HUM G, 8(9), 2000, pp. 717-720
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
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
Authors: Bombieri, C Giorgi, S Carles, S de Cid, R Belpinati, F Tandoi, C Pallares-Ruiz, N Lazaro, C Ciminelli, BM Romey, MC Casals, T Pompei, F Gandini, G Claustres, M Estivill, X Pignatti, PF Modiano, G
Citation: C. Bombieri et al., A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals, HUM GENET, 106(2), 2000, pp. 172-178
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia
Authors: Lira, MG Benetazzo, MG Marzari, MG Bombieri, C Belpinati, F Castellani, C Cavallini, GC Mastella, G Pignatti, PF
Citation: Mg. Lira et al., High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia, AM J HU GEN, 66(6), 2000, pp. 2013-2014
alpha(1)-antitrypsin TAQ I polymorphism and alpha(1)-antichymotrypsin mutations in patients with obstructive pulmonary disease
Authors: Bentazzo, MG Gile, LS Bombieri, C Malerba, G Massobrio, M Pignatti, PF Luisetti, M
Citation: Mg. Bentazzo et al., alpha(1)-antitrypsin TAQ I polymorphism and alpha(1)-antichymotrypsin mutations in patients with obstructive pulmonary disease, RESP MED, 93(9), 1999, pp. 648-654
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
Authors: Bombieri, C Benetazzo, M Saccomani, A Belpinati, F Gile, LS Luisetti, M Pignatti, PF
Citation: C. Bombieri et al., Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease, HUM GENET, 103(6), 1998, pp. 718-722
The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated
Authors: Borgna-Pignatti, C Solinas, A Bombieri, C Micciolo, R Gamberini, MR De Stefano, P De Menis, E Pignatti, PF
Citation: C. Borgna-pignatti et al., The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated, BR J HAEM, 103(3), 1998, pp. 813-816
Risultati: 1-7 |