To read in august...

- Role of Olig1 and Olig2 in Down syndrome.

- TUBA1A mutations cause wide spectrum lissencephaly.

- Cell cloning-based transcriptome analysis in Rett patients.

Our recent publications



Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L.

European Journal of Human Genetics, 2010, in press.


Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice.

Pratte M, Panayotis N, Ghata A, Villard L, Roux JC.

Behavioural Brain Research, 2010, in press.


GPR56-related bilateral frontoparietal polymicrogyria : further evidence of an overlap with the cobblestone complex

Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Baulac M, des Portes V, Moutard ML, Beldjord C, Villard L, Chelly J.

Brain, 2010, in press.


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.


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, 2010, 47:155-161.


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

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

Journal of Neuroscience Research, 2010, 88:1500-1509.