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

af Moncla, A, Philip, N, Mattei, J F
Udgivet 1995

Cerebrofaciothoracic dysplasia: a new family.

af Philip, N, Guala, A, Moncla, A, Monlouis, M, Aymé, S, Giraud, F
Udgivet 1992

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

af Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Udgivet 1991

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

af Mignon, C, Parente, F, Stavropoulou, C, Collignon, P, Moncla, A, Turc-Carel, C, Mattei, M G
Udgivet 1997

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

af Stavropoulou, C, Mignon, C, Delobel, B, Moncla, A, Depetris, D, Croquette, M F, Mattei, M G
Udgivet 1998

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

af Knight, S. J., Voelckel, M. A., Hirst, M. C., Flannery, A. V., Moncla, A., Davies, K. E.
Udgivet 1994

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

af Moncla, A., Malzac, P., Livet, M., Voelckel, M., Mancini, J., Delaroziere, J. C., Philip, N., Mattei, J.
Udgivet 1999

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

af Jouet, M, Moncla, A, Paterson, J, McKeown, C, Fryer, A, Carpenter, N, Holmberg, E, Wadelius, C, Kenwrick, S
Udgivet 1995

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

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

Mutation analysis of UBE3A in Angelman syndrome patients.

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

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

af 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.
Udgivet 2010