To read in march...

- Neuronal migration mechanisms in development and disease.

- A novel sex determination system in a close relative of the house mouse.

- Nup153 and megator define transcriptionally active regions in the Drosophila genome.

Our recent publications



Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli M, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

Journal of Medical Genetics, 2010, 47:49-53.


Biogenic amines in Rett syndrome : the usual suspects.

Roux JC and Villard L.

Behavior Genetics, 2010, 40:59-75.


Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

Journal of Medical Genetics, 2010, 47:132-137.


Progressive oradregernic deficits in the locus coeruleus of the Mecp2 deficient mouse.

Roux JC, Panayotis N, Dura E, Villard L.

Journal of Neuroscience Research, 2009, in press.


Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, van Maldergem L, Roux JC, Villard L.

Gene Expression Patterns, 2009, 9:423-429.


Duplications of the critical Rubinstein Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

Journal of Medical Genetics, 2009, in press.


Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.

European Journal of Medical Genetics, 2009, 52:211-217.


Bilateral periventricular nodular heterotopia in France : frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.

Sole G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Olivier-Faivre L, Landré E, Debruxelles S, Dieux-Coesler A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.

Journal of Neurology Neurosurgery and Psychiatry, 2009, 80:1394-1398.