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Page 1
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: norman cs. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.
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.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Lin S, et al. Among authors: norman cs. NPJ Genom Med. 2022 Jan 13;7(1):2. doi: 10.1038/s41525-021-00275-9. NPJ Genom Med. 2022. PMID: 35027574 Free PMC article.
P.T.T.K. in children.
Norman CS. Norman CS. Lancet. 1972 Mar 18;1(7751):639. doi: 10.1016/s0140-6736(72)90445-x. Lancet. 1972. PMID: 4110335 No abstract available.
18 results