Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Por Nicoletti, Annalisa, Ziccardi, Lucia, Maltese, Paolo Enrico, Benedetti, Sabrina, Palumbo, Orazio, Rendina, Michelina, D'Agruma, Leonardo, Falsini, Benedetto, Wang, Xinjing, Bertelli, Matteo
Publicado no Genet Test Mol Biomarkers (2017)

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Por Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, Gusson, Elena, Marchini, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia
Publicado no J Ophthalmol (2017)