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The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P. Dudakova L, et al. Among authors: hardcastle aj. Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7. Exp Eye Res. 2019. PMID: 30851240
Focus on molecules: nyctalopin.
Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ. Poopalasundaram S, et al. Among authors: hardcastle aj. 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.
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, Prescott Q, Martincova R, Pretorius M, Sinclair N, Boase DL, Jeffrey MJ, Deloukas P, Hardcastle AJ, Filipec M, Bhattacharya SS. Liskova P, et al. Among authors: hardcastle aj. Hum Mutat. 2007 Jun;28(6):638. doi: 10.1002/humu.9495. Hum Mutat. 2007. PMID: 17437275 Free PMC article.
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: hardcastle aj. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: hardcastle aj. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, Webb TR, Bhattacharya SS, Ebenezer ND, Morris AG, Hardcastle AJ. Liskova P, et al. Among authors: hardcastle aj. PLoS One. 2012;7(9):e45495. doi: 10.1371/journal.pone.0045495. Epub 2012 Sep 25. PLoS One. 2012. PMID: 23049806 Free PMC article.
152 results