Clinical and surgical data of affected members of a classic CFEOM 1 family

por Magli, Adriano, de Berardinis, Teresa, D'Esposito, Fabiana, Gagliardi, Vincenzo
Publicado 2003

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization

por Raimondi, Raffaele, D’Esposito, Fabiana, Sorrentino, Tania, Tsoutsanis, Panos, De Rosa, Francesco Paolo, Stradiotto, Elisa, Barone, Gianmaria, Rizzato, Angelica, Allegrini, Davide, Costagliola, Ciro, Romano, Mario R.
Publicado 2023

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

por Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D’Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell’Orco, Daniele, Bertelli, Matteo
Publicado 2020

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

por Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin
Publicado 2021

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

por Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo
Publicado 2019

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

por Frecer, Vladimir, Iarossi, Giancarlo, Salvetti, Anna Paola, Maltese, Paolo Enrico, Delledonne, Giulia, Oldani, Marta, Staurenghi, Giovanni, Falsini, Benedetto, Minnella, Angelo Maria, Ziccardi, Lucia, Magli, Adriano, Colombo, Leonardo, D’Esposito, Fabiana, Miertus, Jan, Viola, Francesco, Attanasio, Marcella, Maggio, Emilia, Bertelli, Matteo
Publicado 2019

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

por Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, Leroux, Michel R.
Publicado 2022