Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Por Moncla, A, Philip, N, Mattei, J F
Publicado em 1995

Cerebrofaciothoracic dysplasia: a new family.

Por Philip, N, Guala, A, Moncla, A, Monlouis, M, Aymé, S, Giraud, F
Publicado em 1992

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Por Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Publicado em 1991

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

Por Mignon, C, Parente, F, Stavropoulou, C, Collignon, P, Moncla, A, Turc-Carel, C, Mattei, M G
Publicado em 1997

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Por Stavropoulou, C, Mignon, C, Delobel, B, Moncla, A, Depetris, D, Croquette, M F, Mattei, M G
Publicado em 1998

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Por Knight, S. J., Voelckel, M. A., Hirst, M. C., Flannery, A. V., Moncla, A., Davies, K. E.
Publicado em 1994

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Por Moncla, A., Malzac, P., Livet, M., Voelckel, M., Mancini, J., Delaroziere, J. C., Philip, N., Mattei, J.
Publicado em 1999

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Por Jouet, M, Moncla, A, Paterson, J, McKeown, C, Fryer, A, Carpenter, N, Holmberg, E, Wadelius, C, Kenwrick, S
Publicado em 1995

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Por Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, Mattei, J F, Munnich, A, Lyonnet, S
Publicado em 1993

Mutation analysis of UBE3A in Angelman syndrome patients.

Por Malzac, P, Webber, H, Moncla, A, Graham, J M, Kukolich, M, Williams, C, Pagon, R A, Ramsdell, L A, Kishino, T, Wagstaff, J
Publicado em 1998

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