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Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP. Cortinhal T, et al. Among authors: carvalho al. Graefes Arch Clin Exp Ophthalmol. 2024 Jun;262(6):1883-1897. doi: 10.1007/s00417-023-06360-2. Epub 2024 Jan 8. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38189974 Free PMC article.
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Among authors: carvalho al. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Carvalho AL, Marques JP, Zeitz C, De Baere E, Damme M. Bauwens M, et al. Among authors: carvalho al. Clin Genet. 2025 Jan;107(1):44-55. doi: 10.1111/cge.14614. Epub 2024 Aug 28. Clin Genet. 2025. PMID: 39199020 Free PMC article.
654 results