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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE. Norman CS, et al. Among authors: griffiths h. Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. Sci Rep. 2017. PMID: 28667292 Free PMC article.
Long term follow-up of a family with GUCY2D dominant cone dystrophy.
Tsokolas G, Almuhtaseb H, Griffiths H, Shawkat F, Pengelly RJ, Sarah E, Lotery A. Tsokolas G, et al. Among authors: griffiths h. Int J Ophthalmol. 2018 Dec 18;11(12):1945-1950. doi: 10.18240/ijo.2018.12.12. eCollection 2018. Int J Ophthalmol. 2018. PMID: 30588428 Free PMC article.
Eplerenone for chronic central serous chorioretinopathy in patients with active, previously untreated disease for more than 4 months (VICI): a randomised, double-blind, placebo-controlled trial.
Lotery A, Sivaprasad S, O'Connell A, Harris RA, Culliford L, Ellis L, Cree A, Madhusudhan S, Behar-Cohen F, Chakravarthy U, Peto T, Rogers CA, Reeves BC; VICI trial investigators. Lotery A, et al. Lancet. 2020 Jan 25;395(10220):294-303. doi: 10.1016/S0140-6736(19)32981-2. Lancet. 2020. PMID: 31982075 Clinical Trial.
1,014 results