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Results: 1-6 |
Results: 6

Authors: Pingault, V Bondurand, N Le Caignec, C Tardieu, S Lemort, N Dubourg, O Le Guern, E Goossens, M Boespflug-Tanguy, O
Citation: V. Pingault et al., The SOX10 transcription factor: evaluation as a candidate gene for centraland peripheral hereditary myelin disorders, J NEUROL, 248(6), 2001, pp. 496-499

Authors: Pingault, V Bondurand, N Lemort, N Sancandi, M Ceccherini, I Hugot, JP Jouk, PS Goossens, M
Citation: V. Pingault et al., A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?, J MED GENET, 38(3), 2001, pp. 205-208

Authors: Bondurand, N Pingault, V Goerich, DE Lemort, N Sock, E Le Caignec, C Wegner, M Goossens, M
Citation: N. Bondurand et al., Interaction among SOX10 PAX3 and MITF, three genes altered in Waardenburg syndrome, HUM MOL GEN, 9(13), 2000, pp. 1907-1917

Authors: Pingault, V Guiochon-Mantel, A Bondurand, N Faure, C Lacroix, C Lyonnet, S Goosens, M Landrieu, P
Citation: V. Pingault et al., Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation, ANN NEUROL, 48(4), 2000, pp. 671-676

Authors: Touraine, RL Attie-Bitach, T Manceau, E Korsch, E Sarda, P Pingault, V Encha-Razavi, F Pelet, A Auge, J Nivelon-Chevallier, A Holschneider, AM Munnes, M Doerfler, W Goossens, M Munnich, A Vekemans, M Lyonnet, S
Citation: Rl. Touraine et al., Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain, AM J HU GEN, 66(5), 2000, pp. 1496-1503

Authors: Bondurand, N Kuhlbrodt, K Pingault, V Enderich, J Sajus, M Tommerup, N Warburg, M Hennekam, RCM Read, AP Wegner, M Goossens, N
Citation: N. Bondurand et al., A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies, HUM MOL GEN, 8(9), 1999, pp. 1785-1789
Risultati: 1-6 |