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Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: silvestri g. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A, Stephenson K, Keegan D, Wynne N, Silvestri G, Humphries P, Kenna PF, Carrigan M, Farrar GJ. Dockery A, et al. Among authors: silvestri g. Genes (Basel). 2017 Nov 3;8(11):304. doi: 10.3390/genes8110304. Genes (Basel). 2017. PMID: 29099798 Free PMC article.
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Stephenson KAJ, Zhu J, Wynne N, Dockery A, Cairns RM, Duignan E, Whelan L, Malone CP, Dempsey H, Collins K, Routledge S, Pandey R, Crossan E, Turner J, O'Byrne JJ, Brady L, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: silvestri g. Orphanet J Rare Dis. 2021 May 5;16(1):200. doi: 10.1186/s13023-021-01841-1. Orphanet J Rare Dis. 2021. PMID: 33952326 Free PMC article.
FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.
Owen LA, Morrison MA, Ahn J, Woo SJ, Sato H, Robinson R, Morgan DJ, Zacharaki F, Simeonova M, Uehara H, Chakravarthy U, Hogg RE, Ambati BK, Kotoula M, Baehr W, Haider NB, Silvestri G, Miller JW, Tsironi EE, Farrer LA, Kim IK, Park KH, DeAngelis MM. Owen LA, et al. Among authors: silvestri g. Invest Ophthalmol Vis Sci. 2014 May 8;55(6):3543-54. doi: 10.1167/iovs.14-14047. Invest Ophthalmol Vis Sci. 2014. PMID: 24812550 Free PMC article.
1,047 results