Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A et al.
International Journal of Molecular Sciences, 2021
34638692 (PubMed )
Supplement: ijms-22-10352-s001.zip › ijms-1381333-supplementary.pdf
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Falsini B et al.
Diagnostics (basel, Switzerland), 2021
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy.
Galli-Resta L et al.
Investigative Ophthalmology & Visual Science, 2018
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2016
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