Myhre syndrome: new reports, review, and differential diagnosis

Por Burglen, L, Heron, D, Moerman, A, Dieux-Coeslier, A, Bourguignon, J, Bachy, A, Carel, J, Cormier-Daire, V, Manouvrier, S, Verloes, A
Publicado em 2003

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

Por Holder-Espinasse, M, Escande, F, Mayrargue, E, Dieux-Coeslier, A, Fron, D, Doual-Bisser, A, Boute-Benejean, O, Robert, Y, Porchet, N, Manouvrier-Hanu, S
Publicado em 2004

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Por Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X
Publicado no Cell Death Differ (2016)

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Por Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., François, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addor, M.-C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., Genevieve, D., Goldenberg, A., Gozu, A., Makrythanasis, P., McEntagart, U., Sanchez, A., Vilain, C., Vermeer, S., Connell, F., Verheij, J., Manouvrier, S., Pierquin, G., Odent, S., Holder-Espinasse, M., Vincent-Delorme, C., Gillerot, Y., Vanwijck, R., Bayet, B., Vikkula, M.
Publicado em 2010