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Gaëtan Lesca
Service de Cytogénétique Constitutionnelle
Hospices Civils de Lyon
Groupement Hospitalier Est
Lyon, France; Faculté de Médecine Lyon Est
France
Name/email consistency: high
- De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. Lesca, G., Till, M., Labalme, A., Vallee, D., Hugonenq, C., Philip, N., Edery, P., Sanlaville, D. Am. J. Med. Genet. A (2011)
- Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Lesca, G., Boutry-Kryza, N., de Toffol, B., Milh, M., Steschenko, D., Lemesle-Martin, M., Maillard, L., Foletti, G., Rudolf, G., Nielsen, J.E., á Rogvi-Hansen, B., Erdal, J., Mancini, J., Thauvin-Robinet, C., M'Rrabet, A., Ville, D., Szepetowski, P., Raffo, E., Hirsch, E., Ryvlin, P., Calender, A., Genton, P. Epilepsia (2010)
- Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, F., Calender, A., Danesino, C., Giraud, S., Plauchu, H. Eur. J. Hum. Genet. (2008)
- Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Lesca, G., Olivieri, C., Burnichon, N., Pagella, F., Carette, M.F., Gilbert-Dussardier, B., Goizet, C., Roume, J., Rabilloud, M., Saurin, J.C., Cottin, V., Honnorat, J., Coulet, F., Giraud, S., Calender, A., Danesino, C., Buscarini, E., Plauchu, H. Genet. Med. (2007)
- Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A. Eur. J. Med. Genet (2007)
- Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., Marion, M.J., Babin, E., Gilbert-Dussardier, B., Rivière, S., Goizet, C., Faivre, L., Plauchu, H., Frébourg, T., Calender, A., Giraud, S. Hum. Mutat. (2006)
- Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, G., Odent, S., Rivière, S., Leheup, B., Goizet, C., Carette, M.F., Cordier, J.F., Pinson, S., Soubrier, F., Calender, A., Giraud, S. Hum. Mutat. (2004)
