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Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: bishop pn. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.
Vitreous phenotype: genotype correlation in Stickler syndrome.
McLeod D, Black GC, Bishop PN. McLeod D, et al. Among authors: bishop pn. Graefes Arch Clin Exp Ophthalmol. 2002 Jan;240(1):63-5; author reply 66. doi: 10.1007/s00417-001-0380-8. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 11954783 No abstract available.
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC. Ellingford JM, et al. Among authors: bishop pn. Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9. Ophthalmology. 2016. PMID: 26872967 Free PMC article.
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium. Taylor RL, et al. Among authors: bishop pn. Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21. Ophthalmology. 2019. PMID: 30905644 Free PMC article.
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.
Cipriani V, Tierney A, Griffiths JR, Zuber V, Sergouniotis PI, Yates JRW, Moore AT, Bishop PN, Clark SJ, Unwin RD. Cipriani V, et al. Among authors: bishop pn. Am J Hum Genet. 2021 Aug 5;108(8):1385-1400. doi: 10.1016/j.ajhg.2021.05.015. Epub 2021 Jul 13. Am J Hum Genet. 2021. PMID: 34260948 Free PMC article.
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.
Mcharg S, Booth L, Perveen R, Riba Garcia I, Brace N, Bayatti N, Sergouniotis PI, Phillips AM, Day AJ, Black GCM, Clark SJ, Dowsey AW, Unwin RD, Bishop PN. Mcharg S, et al. Among authors: bishop pn. Proc Natl Acad Sci U S A. 2022 May 17;119(20):e2118510119. doi: 10.1073/pnas.2118510119. Epub 2022 May 13. Proc Natl Acad Sci U S A. 2022. PMID: 35561216 Free PMC article.
Periodontitis and Outer Retinal Thickness: a Cross-Sectional Analysis of the United Kingdom Biobank Cohort.
Wagner SK, Patel PJ, Huemer J, Khalid H, Stuart KV, Chu CJ, Williamson DJ, Struyven RR, Romero-Bascones D, Foster PJ, Khawaja AP, Petzold A, Balaskas K, Cortina-Borja M, Chapple I, Dietrich T, Rahi JS, Denniston AK, Keane PA; UK Biobank Eye & Vision Consortium. Wagner SK, et al. Ophthalmol Sci. 2024 Jan 20;4(4):100472. doi: 10.1016/j.xops.2024.100472. eCollection 2024 Jul-Aug. Ophthalmol Sci. 2024. PMID: 38560277 Free PMC article.
113 results