Vincent Laugel
Laboratory of Medical Genetics
University of Strasbourg
Strasbourg
France
Name/email consistency: high
- Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Laugel, V., Dalloz, C., Durand, M., Sauvanaud, F., Kristensen, U., Vincent, M.C., Pasquier, L., Odent, S., Cormier-Daire, V., Gener, B., Tobias, E.S., Tolmie, J.L., Martin-Coignard, D., Drouin-Garraud, V., Heron, D., Journel, H., Raffo, E., Vigneron, J., Lyonnet, S., Murday, V., Gubser-Mercati, D., Funalot, B., Brueton, L., Sanchez Del Pozo, J., Muñoz, E., Gennery, A.R., Salih, M., Noruzinia, M., Prescott, K., Ramos, L., Stark, Z., Fieggen, K., Chabrol, B., Sarda, P., Edery, P., Bloch-Zupan, A., Fawcett, H., Pham, D., Egly, J.M., Lehmann, A.R., Sarasin, A., Dollfus, H. Hum. Mutat. (2010)
- Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Laugel, V., Dalloz, C., Tobias, E.S., Tolmie, J.L., Martin-Coignard, D., Drouin-Garraud, V., Valayannopoulos, V., Sarasin, A., Dollfus, H. J. Med. Genet. (2008)
- Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Laugel, V., Dalloz, C., Stary, A., Cormier-Daire, V., Desguerre, I., Renouil, M., Fourmaintraux, A., Velez-Cruz, R., Egly, J.M., Sarasin, A., Dollfus, H. Eur. J. Hum. Genet. (2008)
- Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Laugel, V., Cossée, M., Matis, J., de Saint-Martin, A., Echaniz-Laguna, A., Mandel, J.L., Astruc, D., Fischbach, M., Messer, J. Eur. J. Pediatr. (2008)
- Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations. Laugel, V., This-Bernd, V., Cormier-Daire, V., Speeg-Schatz, C., de Saint-Martin, A., Fischbach, M. Pediatr. Neurol. (2007)
