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Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15.
Ophthalmic Res. 2022.
PMID: 34781295
Free article.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Biasi A, Marino V, Dal Cortivo G, Maltese PE, Modarelli AM, Bertelli M, Colombo L, Dell'Orco D.
Biasi A, et al. Among authors: modarelli am.
Int J Mol Sci. 2021 Oct 6;22(19):10809. doi: 10.3390/ijms221910809.
Int J Mol Sci. 2021.
PMID: 34639157
Free PMC article.
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Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M.
Iarossi G, et al. Among authors: modarelli am.
Int J Mol Sci. 2020 Dec 31;22(1):381. doi: 10.3390/ijms22010381.
Int J Mol Sci. 2020.
PMID: 33396523
Free PMC article.
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