Hardcastle AJ - Search Results

1

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: hardcastle aj. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191

2

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82. Invest Ophthalmol Vis Sci. 2002. PMID: 11818380

3

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

Chapple JP, Hardcastle AJ, Grayson C, Willison KR, Cheetham ME. Chapple JP, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):2015-20. Invest Ophthalmol Vis Sci. 2002. PMID: 12037013

4

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Grayson C, Bartolini F, Chapple JP, Willison KR, Bhamidipati A, Lewis SA, Luthert PJ, Hardcastle AJ, Cowan NJ, Cheetham ME. Grayson C, et al. Among authors: hardcastle aj. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/11.24.3065. Hum Mol Genet. 2002. PMID: 12417528

5

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: hardcastle aj. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565

6

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Chapple JP, Grayson C, Hardcastle AJ, Bailey TA, Matter K, Adamson P, Graham CH, Willison KR, Cheetham ME. Chapple JP, et al. Among authors: hardcastle aj. Biochem J. 2003 Jun 1;372(Pt 2):427-33. doi: 10.1042/BJ20021475. Biochem J. 2003. PMID: 12648035 Free PMC article.

7

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Rana NA, Ebenezer ND, Webster AR, Linares AR, Whitehouse DB, Povey S, Hardcastle AJ. Rana NA, et al. Among authors: hardcastle aj. Hum Mol Genet. 2004 Dec 15;13(24):3089-102. doi: 10.1093/hmg/ddh337. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509594

8

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: hardcastle aj. Am J Ophthalmol. 2005 Jan;139(1):192-3. doi: 10.1016/j.ajo.2004.07.001. Am J Ophthalmol. 2005. PMID: 15652851

9

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

10

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.

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