Hardcastle AJ - Search Results

1

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Cheong SS, et al. Among authors: hardcastle aj. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839872 Free PMC article.

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

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

4

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. Johnson S, et al. Among authors: hardcastle aj. Genomics. 2003 Mar;81(3):304-14. doi: 10.1016/s0888-7543(03)00010-7. Genomics. 2003. PMID: 12659814

5

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

6

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

7

Clinical and molecular characterization of a family with autosomal recessive cornea plana.

Ebenezer ND, Patel CB, Hariprasad SM, Chen LL, Patel RJ, Hardcastle AJ, Allen RC. Ebenezer ND, et al. Among authors: hardcastle aj. Arch Ophthalmol. 2005 Sep;123(9):1248-53. doi: 10.1001/archopht.123.9.1248. Arch Ophthalmol. 2005. PMID: 16157807

8

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hardcastle aj. Surv Ophthalmol. 2006 May-Jun;51(3):232-58. doi: 10.1016/j.survophthal.2006.02.007. Surv Ophthalmol. 2006. PMID: 16644365 Review.

9

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.

10

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Liskova P, Klintworth GK, Bowling BL, Filipec M, Jirsova K, Tuft SJ, Bhattacharya SS, Hardcastle AJ, Ebenezer ND. Liskova P, et al. Among authors: hardcastle aj. Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6. Ophthalmic Res. 2008. PMID: 18259096

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