A lire en mai...

- Translocations équilibrées et phénotypes anormaux : quelle est la relation ?

- Gènes de retard mental liés au chromosome X : bilan 2007.

- Un décours biphasique pour les défauts synaptiques chez la souris "Rett".

Nos publications récentes


A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N.

Human Mutation, 2007, 28:1183-1188.


Pharmacological treatment of Rett syndrome improve breathing and survival in a mouse model for Rett syndrome.

Roux JC, Villard L.

Médecine & Sciences, 2007, 23:805-807.


MECP2 mutations in males.

Villard L.

Journal of Medical Genetics, 2007, 44:417-423.


Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

Roux JC, Dura E, Moncla A, Mancini J, Villard L.

European Journal of Neuroscience, 2007, 25:1915-1922.


Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model.

Viola A, Saywell V, Villard L, Cozzone PJ, Lutz NW.

PlosOne, 2007, 2:e157.


Truncation of NHEJ1 in a patient with polymicrogyria.

Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L.

Human Mutation, 2007, 28:356-364.