A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded pat...

Por Longo, I, Frints, S, Fryns, J, Meloni, I, Pescucci, C, Ariani, F, Borghgraef, M, Raynaud, M, Marynen, P, Schwartz, C, Renieri, A, Froyen, G
Publicado em 2003

Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

Por Ariani, F, Mari, F, Amitrano, S, Di Marco, C, Artuso, R, Scala, E, Meloni, I, Della Volpe, R, Rossi, A, Bokhoven, H, Renieri, A
Publicado em 2013

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Por Scala, E, Ariani, F, Mari, F, Caselli, R, Pescucci, C, Longo, I, Meloni, I, Giachino, D, Bruttini, M, Hayek, G, Zappella, M, Renieri, A
Publicado em 2005

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Por Bijlsma, E.K., Collins, A., Papa, F.T., Tejada, M.I., Wheeler, P., Peeters, E.A.J., Gijsbers, A.C.J., van de Kamp, J.M., Kriek, M., Losekoot, M., Broekma, A.J., Crolla, J.A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M.I., Marozza, A., Mencarelli, M.A., Castagnini, C., Dosa, L., Ariani, F., Mari, F., Canitano, R., Hayek, G., Botella, M.P., Gener, B., Mínguez, M., Renieri, A., Ruivenkamp, C.A.L.
Publicado em 2012