PubMed

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.

Br J Ophthalmol. 2009 Sep;93(9):1151-4. Epub 2009 May 7.PMID: 19429592 [PubMed - indexed for MEDLINE]Related articles

Blue cone monochromacy: causative mutations and associated phenotypes.

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ.

Mol Vis. 2009;15:876-84. Epub 2009 May 1.PMID: 19421413 [PubMed - indexed for MEDLINE]Related articlesFree article

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ.

Hum Mol Genet. 2009 Jul 15;18(14):2643-55. Epub 2009 May 4.PMID: 19414485 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Ophthalmic Res. 2008;40(2):105-8. Epub 2008 Feb 6.PMID: 18259096 [PubMed - indexed for MEDLINE]Related articles

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.

Hornan DM, Peirson SN, Hardcastle AJ, Molday RS, Cheetham ME, Webster AR.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5388-96.PMID: 18055785 [PubMed - indexed for MEDLINE]Related articlesFree article

Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.

Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer ND, Hysi PG, Hardcastle AJ, Tuft SJ, Bhattacharya SS.

Br J Ophthalmol. 2008 Feb;92(2):265-7. Epub 2007 Oct 25.PMID: 17962390 [PubMed - indexed for MEDLINE]Related articles

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel.

Ocaka L, Zhao C, Reed JA, Ebenezer ND, Brice G, Morley T, Mehta M, O'Dowd J, Weber JL, Hardcastle AJ, Child AH.

J Med Genet. 2008 Feb;45(2):87-92. Epub 2007 Oct 11.PMID: 17932119 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mutat. 2007 Jun;28(6):638.PMID: 17437275 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Huang KM, Wu J, Brooks SP, Hardcastle AJ, Lewis RA, Stambolian D.

Mol Vis. 2007 Mar 27;13:470-4.PMID: 17417607 [PubMed - indexed for MEDLINE]Related articlesFree article

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJ, Mannens MM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AA.

Eur J Hum Genet. 2006 Sep;14(9):986-90. Epub 2006 May 31.PMID: 16736028 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT.

Surv Ophthalmol. 2006 May-Jun;51(3):232-58. Review.PMID: 16644365 [PubMed - indexed for MEDLINE]Related articles

Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?

Ung T, Allen LE, Moore AT, Trump D, Zito I, Hardcastle AJ, Yates J, Bradshaw K.

Doc Ophthalmol. 2005 Nov;111(3):169-78. Epub 2006 Mar 6. Erratum in: Doc Ophthalmol. 2006 May;112(3):219. Zito, I [added]; Hardcastle, A J]. PMID: 16523234 [PubMed - indexed for MEDLINE]Related articles

Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.

Evans RJ, Chapple JP, Grayson C, Hardcastle AJ, Cheetham ME.

Methods Enzymol. 2005;404:468-80.PMID: 16413292 [PubMed - indexed for MEDLINE]Related articles

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

Evans RJ, Hardcastle AJ, Cheetham ME.

Exp Eye Res. 2006 Apr;82(4):543-4. Epub 2005 Nov 28. Review. No abstract available. PMID: 16310188 [PubMed - indexed for MEDLINE]Related articles

Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4480-4.PMID: 16303937 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Arch Ophthalmol. 2005 Sep;123(9):1248-53.PMID: 16157807 [PubMed - indexed for MEDLINE]Related articlesFree article

Focus on molecules: nyctalopin.

Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ.

Exp Eye Res. 2005 Dec;81(6):627-8. Epub 2005 Sep 12. Review. No abstract available. PMID: 16157331 [PubMed - indexed for MEDLINE]Related articles

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

El-Ashry MF, Abd El-Aziz MM, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

Ophthalmic Res. 2005 Nov-Dec;37(6):310-7. Epub 2005 Aug 23.PMID: 16118514 [PubMed - indexed for MEDLINE]Related articles

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.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8.PMID: 15914600 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Am J Ophthalmol. 2005 Jan;139(1):192-3.PMID: 15652851 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mol Genet. 2004 Dec 15;13(24):3089-102. Epub 2004 Oct 27.PMID: 15509594 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of the gene for Nance-Horan syndrome (NHS).

Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ.

J Med Genet. 2004 Oct;41(10):768-71.PMID: 15466011 [PubMed - indexed for MEDLINE]Related articlesFree article

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ.

Br J Ophthalmol. 2004 Apr;88(4):528-32.PMID: 15031171 [PubMed - indexed for MEDLINE]Related articlesFree article

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

El-Ashry MF, Abd El-Aziz MM, Ficker LA, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

Eye (Lond). 2004 Jul;18(7):723-8.PMID: 15017378 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.

Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT.

Br J Ophthalmol. 2003 Nov;87(11):1413-20.PMID: 14609846 [PubMed - indexed for MEDLINE]Related articlesFree article

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, Bamiou DE, Hardcastle AJ.

J Med Genet. 2003 Aug;40(8):609-15. No abstract available. PMID: 12920075 [PubMed - indexed for MEDLINE]Related articlesFree article

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

El-Ashry MF, Abd El-Aziz MM, Larkin DF, Clarke B, Cree IA, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

Br J Ophthalmol. 2003 Jul;87(7):839-42.PMID: 12812879 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Genomics. 2003 Mar;81(3):304-14.PMID: 12659814 [PubMed - indexed for MEDLINE]Related articles

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.

Biochem J. 2003 Jun 1;372(Pt 2):427-33.PMID: 12648035 [PubMed - indexed for MEDLINE]Related articlesFree 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.

Hum Mutat. 2003 Feb;21(2):169.PMID: 12552565 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mol Genet. 2002 Nov 15;11(24):3065-74.PMID: 12417528 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):2015-20.PMID: 12037013 [PubMed - indexed for MEDLINE]Related articlesFree article

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Thiselton DL, McDowall J, Brandau O, Ramser J, d'Esposito F, Bhattacharya SS, Ross MT, Hardcastle AJ, Meindl A.

Genomics. 2002 Apr;79(4):560-72. Erratum in: Genomics 2002 Jun;79(6):891. PMID: 11944989 [PubMed - indexed for MEDLINE]Related articles

A locus for isolated cataract on human Xp.

Francis PJ, Berry V, Hardcastle AJ, Maher ER, Moore AT, Bhattacharya SS.

J Med Genet. 2002 Feb;39(2):105-9.PMID: 11836358 [PubMed - indexed for MEDLINE]Related articlesFree article

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients.

Grayson C, Chapple JP, Willison KR, Webster AR, Hardcastle AJ, Cheetham ME.

J Med Genet. 2002 Jan;39(1):62-7. No abstract available. PMID: 11826029 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82.PMID: 11818380 [PubMed - indexed for MEDLINE]Related articlesFree article

Unfolding retinal dystrophies: a role for molecular chaperones?

Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME.

Trends Mol Med. 2001 Sep;7(9):414-21. Review.PMID: 11530337 [PubMed - indexed for MEDLINE]Related articles

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.

Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE.

Retina. 2001;21(1):78-80. No abstract available. PMID: 11217940 [PubMed - indexed for MEDLINE]Related articles

Sequence variation within the RPGR gene: evidence for a founder complex allele.

Zito I, Morris A, Tyson P, Winship I, Sharp D, Gilbert D, Thiselton DL, Bhattacharya SS, Hardcastle AJ.

Hum Mutat. 2000 Sep;16(3):273-4.PMID: 10980543 [PubMed - indexed for MEDLINE]Related articles

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME.

Hum Mol Genet. 2000 Aug 12;9(13):1919-26.PMID: 10942419 [PubMed - indexed for MEDLINE]Related articlesFree article

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6.PMID: 10892847 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Mutat. 2000 Jun;15(6):580.PMID: 10862093 [PubMed - indexed for MEDLINE]Related articles

Novel mutations of the RPGR gene in RP3 families.

Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Mutat. 2000 Apr;15(4):386.PMID: 10737996 [PubMed - indexed for MEDLINE]Related articles

Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids.

Chapple JP, Hardcastle AJ, Kurzik-Dumke U, Collier DA, Cheetham ME.

Cytogenet Cell Genet. 1999;86(1):62-3. No abstract available. PMID: 10516435 [PubMed - indexed for MEDLINE]Related articles

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.

Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC.

Br J Ophthalmol. 1999 Oct;83(10):1144-8.PMID: 10502575 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Genet. 1999 Jul-Aug;105(1-2):57-62.PMID: 10480356 [PubMed - indexed for MEDLINE]Related articles

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S.

Am J Hum Genet. 1999 Apr;64(4):1210-5. No abstract available. PMID: 10090907 [PubMed - indexed for MEDLINE]Related articlesFree article

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5.PMID: 9418727 [PubMed - indexed for MEDLINE]Related articlesFree article

Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.

Hardcastle AJ, Thiselton DL, Nayudu M, Hampson RM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 1997 Aug;38(9):1893-6. Erratum in: Invest Opyhthalmol Vis Sci 1998 Feb;39(2):219. PMID: 9286280 [PubMed - indexed for MEDLINE]Related articlesFree article

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

Thiselton DL, Hampson RM, Nayudu M, Van Maldergem L, Wolf ML, Saha BK, Bhattacharya SS, Hardcastle AJ.

Genome Res. 1996 Nov;6(11):1093-102.PMID: 8938433 [PubMed - indexed for MEDLINE]Related articlesFree article