GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Por Iossa, Sandra, Marciano, Elio, Franzé, Annamaria
Publicado em 2011

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

Por Vuckovic, Dragana, Dallapiccola, Bruno, Franzè, Annamaria, Mauri, Lucia, Perrone, Maria Dolores, Gasparini, Paolo
Publicado no Eur J Hum Genet (2015)

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

Por Iossa, Sandra, Morello, Giovanna, Esposito, Teresa, Corvino, Virginia, Giannini, Pasquale, Salvato, Raffaella, Cavaliere, Michele, Panetti, Maria, Panetti, Giuseppe, Piantedosi, Bruno, Gianfrancesco, Fernando, Marciano, Elio, Franzè, Annamaria
Publicado em 2014

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic s...

Por Esposito, Gabriella, Testa, Francesco, Zacchia, Miriam, Crispo, Anna Alessia, Di Iorio, Valentina, Capolongo, Giovanna, Rinaldi, Luca, D’Antonio, Marcella, Fioretti, Tiziana, Iadicicco, Pasquale, Rossi, Settimio, Franzè, Annamaria, Marciano, Elio, Capasso, Giovanbattista, Simonelli, Francesca, Salvatore, Francesco
Publicado no BMC Med Genet (2017)

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Por Iossa, Sandra, Costa, Valerio, Corvino, Virginia, Auletta, Gennaro, Barruffo, Luigi, Cappellani, Stefania, Ceglia, Carlo, Cennamo, Giovanni, D’Adamo, Adamo Pio, D’Amico, Alessandra, Di Paolo, Nilde, Forte, Raimondo, Gasparini, Paolo, Laria, Carla, Lombardo, Barbara, Malesci, Rita, Vitale, Andrea, Marciano, Elio, Franzè, Annamaria
Publicado no Mol Cytogenet (2015)