Functional analysis of splicing mutations in exon 7 of NF1 gene

by Bottillo, Irene, De Luca, Alessandro, Schirinzi, Annalisa, Guida, Valentina, Torrente, Isabella, Calvieri, Stefano, Gervasini, Cristina, Larizza, Lidia, Pizzuti, Antonio, Dallapiccola, Bruno
Published 2007

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A h...

by Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola
Published 2013

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

by Zhao, Xiangzhong, Cui, Li, Lang, Yanhua, liu, Ting, Lu, Jingru, Wang, Cui, Tuffery-Giraud, Sylvie, Bottillo, Irene, Wang, Xinsheng, Shao, Leping
Published 2016

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

by Bottillo, Irene, D’Angelantonio, Daniela, Caputo, Viviana, Paiardini, Alessandro, Lipari, Martina, De Bernardo, Carmelilia, Majore, Silvia, Castori, Marco, Zachara, Elisabetta, Re, Federica, Grammatico, Paola
Published 2016

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

by Laino, Luigi, Majore, Silvia, Preziosi, Nicoletta, Grammatico, Barbara, De Bernardo, Carmelilia, Scommegna, Salvatore, Rapone, Anna Maria, Marrocco, Giacinto, Bottillo, Irene, Grammatico, Paola
Published 2014