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Results: 1-8 |
Results: 8
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France
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
Mild clinical phenotype associated with R1158X/S549R(T -> G) CFTR genotype
Authors: Frossard, PM Abdelaziz, SA Hertecant, J Girodon, E Goossens, M Dawson, KP
Citation: Pm. Frossard et al., Mild clinical phenotype associated with R1158X/S549R(T -> G) CFTR genotype, CLIN GENET, 58(2), 2000, pp. 147-149
Identification of cystic fibrosis mutations in Oman
Authors: Frossard, PM Dawson, KP Das, SJ Alexander, PC Girodon, E Goossens, M
Citation: Pm. Frossard et al., Identification of cystic fibrosis mutations in Oman, CLIN GENET, 57(3), 2000, pp. 235-236
Lack of evidence of heterozygosity for cystic fibrosis as a risk factor for invasive aspergillosis in haematological patients
Authors: Costes, B Girodon, E Jabot-Lestang, L Cordonnier, C Bretagne, S
Citation: B. Costes et al., Lack of evidence of heterozygosity for cystic fibrosis as a risk factor for invasive aspergillosis in haematological patients, EUR J CL M, 18(9), 1999, pp. 677-678
Complex allele [-102T > A+S549R(T > G)] is associated with milder forms ofcystic fibrosis than allele S549R[T > G) alone
Authors: Romey, MC Guittard, C Chazalette, JP Frossard, P Dawson, KP Patton, MA Casals, T Bazarbachi, T Girodon, E Rault, G Bozon, D Seguret, F Demaille, J Claustres, M
Citation: Mc. Romey et al., Complex allele [-102T > A+S549R(T > G)] is associated with milder forms ofcystic fibrosis than allele S549R[T > G) alone, HUM GENET, 105(1-2), 1999, pp. 145-150
Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis
Authors: Fanen, P Clain, J Labarthe, R Hulin, P Girodon, E Pagesy, P Goossens, M Edelman, A
Citation: P. Fanen et al., Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis, FEBS LETTER, 452(3), 1999, pp. 371-374
Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening
Authors: Frossard, PM Lestringant, G Girodon, E Goossens, M Dawson, KP
Citation: Pm. Frossard et al., Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening, CLIN GENET, 55(6), 1999, pp. 496-497
Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved
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
Risultati: 1-8 |