Publications:

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics

Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G

Publication Date: 2022

Variant appearance in text: USH2A: 9433_9437delinsAGGAGATCATATCCATTCCATAGGA; Leu3145Argfs*22

PubMed Link: 35836572

Variant Present in the following documents:

• Table1.xlsx, sheet 5

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L

Publication Date: 2021-02-01

Variant appearance in text: USH2A: 9433_9437delinsAGGAGATCATATCCATTCCATAGGA; Leu3145Argfs*22

PubMed Link: 33576794

Variant Present in the following documents:

• iovs-62-2-13_s001.xlsx, sheet 4
• iovs-62-2-13_s001.xlsx, sheet 8

View BVdb publication page