Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

Por Flavio Rizzolio, Silvia Bione, Cinzia Sala, Carla Tribioli, Roberto Ciccone, Orsetta Zuffardi, Natascia di Iorgi, Mohamad Maghnie, Daniela Toniolo
Publicado em 2008-01-01

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Por Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, Debora Groppetti, Enrico Bigliardi, Gaia Cecilia Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, Pietro Parma
Publicado em 2014-01-01

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Por Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
Publicado em 2017-04-01

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

Por Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi
Publicado em 2012-01-01