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

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

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

Molecular analysis of the VSX1 gene in familial keratoconus.

Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS.

Mol Vis. 2007 Oct 4;13:1887-91.PMID: 17960127 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.

Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VH, Tuft SJ, Viswanathan D, El-Ashry MF, Liskova P, Tan DT, Bhattacharya SS, Kumaramanickavel G, Vithana EN.

Hum Mutat. 2007 May;28(5):522-3.PMID: 17397048 [PubMed - indexed for MEDLINE]Related articles

Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients.

Jirsova K, Merjava S, Martincova R, Gwilliam R, Ebenezer ND, Liskova P, Filipec M.

Exp Eye Res. 2007 Apr;84(4):680-6. Epub 2006 Dec 15.PMID: 17289024 [PubMed - indexed for MEDLINE]Related articles

Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies.

Young RD, Akama TO, Liskova P, Ebenezer ND, Allan B, Kerr B, Caterson B, Fukuda MN, Quantock AJ.

Histochem Cell Biol. 2007 Jan;127(1):115-20. Epub 2006 Aug 30.PMID: 16944190 [PubMed - indexed for MEDLINE]Related articles

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T.

Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.PMID: 16767101 [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

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

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.

Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS.

J Med Genet. 2003 Aug;40(8):e101. No abstract available. PMID: 12920093 [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 organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.

Halford S, Inglis S, Gwilliam R, Spencer P, Mohamed M, Ebenezer ND, Hunt DM.

Exp Eye Res. 2002 Nov;75(5):619-23. No abstract available. PMID: 12457874 [PubMed - indexed for MEDLINE]Related articles

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS.

Hum Genet. 2002 May;110(5):513-4. Epub 2002 Apr 10.PMID: 12073024 [PubMed - indexed for MEDLINE]Related articles

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9.PMID: 12036988 [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

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, Alexander C, Votruba M, Brice G, Child AH, Francis PJ, Hitchings RA, Lehmann OJ, Bhattacharya SS.

Hum Genet. 2002 Jan;110(1):52-6. Epub 2001 Nov 23.PMID: 11810296 [PubMed - indexed for MEDLINE]Related articles

A novel keratocan mutation causing autosomal recessive cornea plana.

Lehmann OJ, El-ashry MF, Ebenezer ND, Ocaka L, Francis PJ, Wilkie SE, Patel RJ, Ficker L, Jordan T, Khaw PT, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22.PMID: 11726611 [PubMed - indexed for MEDLINE]Related articlesFree article

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS.

Mol Cell. 2001 Aug;8(2):375-81.PMID: 11545739 [PubMed - indexed for MEDLINE]Related articles

Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids.

Murray S, Halford S, Ebenezer ND, Gregory-Evans CY, Bhattacharya SS.

Cytogenet Cell Genet. 2001;92(3-4):353. No abstract available. PMID: 11435715 [PubMed - indexed for MEDLINE]Related articles

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS.

Am J Hum Genet. 2000 Nov;67(5):1129-35. Epub 2000 Sep 27.PMID: 11007653 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

Hameed A, Khaliq S, Ismail M, Anwar K, Ebenezer ND, Jordan T, Mehdi SQ, Payne AM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Mar;41(3):629-33.PMID: 10711674 [PubMed - indexed for MEDLINE]Related articlesFree article

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS.

Hum Mol Genet. 1995 Dec;4(12):2395-8.PMID: 8634716 [PubMed - indexed for MEDLINE]Related articles