Nonsense-mediated mRNA decay: inter-individual variability and human disease

Por Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef
Publicado em 2013

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Por Nguyen, Lam Son, Lepleux, Marylin, Makhlouf, Mélanie, Martin, Christelle, Fregeac, Julien, Siquier-Pernet, Karine, Philippe, Anne, Feron, François, Gepner, Bruno, Rougeulle, Claire, Humeau, Yann, Colleaux, Laurence
Publicado no Mol Autism (2016)

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Por Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.
Publicado em 2014

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Por Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, Valérie, Colleaux, Laurence
Publicado no Eur J Hum Genet (2016)

Rare copy number variation in cerebral palsy

Por McMichael, Gai, Girirajan, Santhosh, Moreno-De-Luca, Andres, Gecz, Jozef, Shard, Chloe, Nguyen, Lam Son, Nicholl, Jillian, Gibson, Catherine, Haan, Eric, Eichler, Evan, Martin, Christa Lese, MacLennan, Alastair
Publicado em 2014

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Por Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Publicado em 2013