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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
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A
Authors: Bernard, R Labelle, V Negre, P Tardieu, S Azulay, JP Malzac, P Mattei, JF Leguern, E Philip, N Levy, N
Citation: R. Bernard et al., Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A, EUR J HUM G, 8(3), 2000, pp. 229-235
Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: Effect of GH therapy in 14 children
Authors: Tauber, M Barbeau, C Jouret, B Pienkowski, C Malzac, P Moncla, A Rochiccioli, P
Citation: M. Tauber et al., Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: Effect of GH therapy in 14 children, HORMONE RES, 53(6), 2000, pp. 279-287
Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family
Authors: Chauve, X Missirian, C Malzac, P Girardot, L Guys, JM Louis, C Philip, N Voelckel, MA
Citation: X. Chauve et al., Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family, AM J MED G, 95(1), 2000, pp. 10-12
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients
Authors: Moncla, A Malzac, P Voelckel, MA Auquier, P Girardot, L Mattei, MG Philip, N Mattei, JF Lalande, M Livet, MO
Citation: A. Moncla et al., Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients, EUR J HUM G, 7(2), 1999, pp. 131-139
Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes
Authors: Bouju, S Pietu, G Le Cunff, M Cros, N Malzac, P Pellissier, JF Pons, F Leger, JJ Auffray, C Dechesne, CA
Citation: S. Bouju et al., Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes, NEUROMUSC D, 9(1), 1999, pp. 3-10
Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling
Authors: Moncla, A Malzac, P Livet, MO Voelckel, MA Mancini, J Delaroziere, JC Philip, N Mattei, JF
Citation: A. Moncla et al., Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling, J MED GENET, 36(7), 1999, pp. 554-560
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 |