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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. 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. 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.
Management of nystagmus in children: a review of the literature and current practice in UK specialist services.
Self JE, Dunn MJ, Erichsen JT, Gottlob I, Griffiths HJ, Harris C, Lee H, Owen J, Sanders J, Shawkat F, Theodorou M, Whittle JP; Nystagmus UK Eye research group (NUKE). Self JE, et al. Among authors: griffiths hj. Eye (Lond). 2020 Sep;34(9):1515-1534. doi: 10.1038/s41433-019-0741-3. Epub 2020 Jan 9. Eye (Lond). 2020. PMID: 31919431 Free PMC article. Review.
208 results