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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Among authors: moore at. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: moore at. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
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: moore at. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565
Inherited retinal dystrophy and asymmetric axial length.
Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S. Francis P, et al. Br J Ophthalmol. 2003 Apr;87(4):503-4. doi: 10.1136/bjo.87.4.503. Br J Ophthalmol. 2003. PMID: 12642322 Free PMC article. No abstract available.
501 results