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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: cheetham me. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: cheetham me. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565
Focus on molecules: nyctalopin.
Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ. Poopalasundaram S, et al. Among authors: cheetham me. Exp Eye Res. 2005 Dec;81(6):627-8. doi: 10.1016/j.exer.2005.07.017. Epub 2005 Sep 12. Exp Eye Res. 2005. PMID: 16157331 Review. No abstract available.
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.
Evans RJ, Hardcastle AJ, Cheetham ME. Evans RJ, et al. Among authors: cheetham me. Exp Eye Res. 2006 Apr;82(4):543-4. doi: 10.1016/j.exer.2005.10.023. Epub 2005 Nov 28. Exp Eye Res. 2006. PMID: 16310188 Review. No abstract available.
187 results