Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.

Por Clark, P A, Lester, T, Villard, L, Fontes, M, Kinnon, C
Publicado em 1994

A time to pregnancy questionnaire designed for long term recall: validity in Oxford, England.

Por Joffe, M, Villard, L, Li, Z, Plowman, R, Vessey, M
Publicado em 1995

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

Por Ronce, N, Moizard, M P, Robb, L, Toutain, A, Villard, L, Moraine, C
Publicado em 1997

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Por Villard, L., Toutain, A., Lossi, A. M., Gecz, J., Houdayer, C., Moraine, C., Fontès, M.
Publicado em 1996

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

Por Philip, N, Chabrol, B, Lossi, A, Cardoso, C, Guerrini, R, Dobyns, W, Raybaud, C, Villard, L
Publicado em 2003

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in t...

Por Lossi, A M, Millán, J M, Villard, L, Orellana, C, Cardoso, C, Prieto, F, Fontés, M, Martínez, F
Publicado em 1999

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Por Cantagrel, V, Lossi, A, Boulanger, S, Depetris, D, Mattei, M, Gecz, J, Schwartz, C, Van Maldergem, L, Villard, L
Publicado em 2004

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Por Lossi, A, Laugier-Anfossi, F, Depetris, D, Gecz, J, Gedeon, A, Kooy, F, Schwartz, C, Mattei, M, Croquette, M, Villard, L
Publicado em 2002

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

Por Villard, L., Levy, N., Xiang, F., Kpebe, A., Labelle, V., Chevillard, C., Zhang, Z., Schwartz, C., Tardieu, M., Chelly, J., Anvret, M., Fontes, M.
Publicado em 2001

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

Por Villard, L., Briault, S., Lossi, A., Paringaux, C., Belougne, J., Colleaux, L., Pincus, D, Woollatt, E, Lespinasse, J., Munnich, A., Moraine, C., Fontes, M., Gecz, J.
Publicado em 1999

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Por Villard, L., Bonino, M., Abidi, F., Ragusa, A., Belougne, J., Lossi, A., Seaver, L., Bonnefont, J., Romano, C., Fichera, M., Lacombe, D., Hanauer, A., Philip, N., Schwartz, C., Fontes, M.
Publicado em 1999