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Results: 1-6 |
Results: 6
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
Authors: Monnier, N Romero, NB Lerale, J Landrieu, P Nivoche, Y Fardeau, M Lunardi, J
Citation: N. Monnier et al., Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor, HUM MOL GEN, 10(22), 2001, pp. 2581-2592
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
OCRL1 mutation analysis in French Lowe syndrome patients: Implications formolecular diagnosis strategy and genetic counseling
Authors: Monnier, N Satre, V Lerouge, E Berthoin, F Lunardi, J
Citation: N. Monnier et al., OCRL1 mutation analysis in French Lowe syndrome patients: Implications formolecular diagnosis strategy and genetic counseling, HUM MUTAT, 16(2), 2000, pp. 157-165
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
Authors: Monnier, N Romero, NB Lerale, J Nivoche, Y Qi, D MacLennan, DH Fardeau, M Lunardi, J
Citation: N. Monnier et al., An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor, HUM MOL GEN, 9(18), 2000, pp. 2599-2608
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene
Authors: Satre, V Monnier, N Berthoin, F Ayuso, C Joannard, A Jouk, PS Lopez-Pajares, I Megabarne, A Philippe, HJ Plauchu, H Torres, ML Lunardi, J
Citation: V. Satre et al., Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene, AM J HU GEN, 65(1), 1999, pp. 68-76
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: 1-6 |