A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

por Sabry, S., Vuillaumier-Barrot, S., Mintet, E., Fasseu, M., Valayannopoulos, V., Héron, D., Dorison, N., Mignot, C., Seta, N., Chantret, I., Dupré, T., Moore, S. E. H.
Publicado 2016

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

por Mouillé, M., Rio, M., Breton, S., Piketty, M. L., Afenjar, A., Amiel, J., Capri, Y., Goldenberg, A., Francannet, C., Michot, C., Mignot, C., Perrin, L., Quelin, C., Van Gils, J., Barcia, G., Pingault, V., Maruani, G., Koumakis, E., Cormier-Daire, V.
Publicado 2022

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

por Nava, C, Lamari, F, Héron, D, Mignot, C, Rastetter, A, Keren, B, Cohen, D, Faudet, A, Bouteiller, D, Gilleron, M, Jacquette, A, Whalen, S, Afenjar, A, Périsse, D, Laurent, C, Dupuits, C, Gautier, C, Gérard, M, Huguet, G, Caillet, S, Leheup, B, Leboyer, M, Gillberg, C, Delorme, R, Bourgeron, T, Brice, A, Depienne, C
Publicado 2012