PubMed

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR.

Am J Hum Genet. 2009 Nov;85(5):711-9. Epub 2009 Oct 29.PMID: 19878917 [PubMed - in process]Related articles

Novel Mutations and Electrophysiologic Findings in RGS9- andR9AP-Associated Retinal Dysfunction (Bradyopsia).

Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR.

Ophthalmology. 2009 Oct 7. [Epub ahead of print]PMID: 19818506 [PubMed - as supplied by publisher]Related articles

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.

Saihan Z, Li Z, Rice J, Rana NA, Ramsden S, Schlottmann PG, Jenkins SA, Blyth C, Black GC, McKie N, Webster AR.

Mol Vis. 2009 Jun 15;15:1218-30.PMID: 19536307 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A.

Am J Hum Genet. 2009 Jun;84(6):792-800.PMID: 19520207 [PubMed - indexed for MEDLINE]Related articles

Clinicopathological case series of four patients with inherited macular disease.

Wickham L, Chen FK, Lewis GP, Uppal GS, Neveu MM, Wright GA, Robson AG, Webster AR, Grierson I, Hiscott P, Coffey PJ, Holder GE, Fisher SK, Da Cruz L.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3553-61. Epub 2009 Mar 11.PMID: 19279306 [PubMed - indexed for MEDLINE]Related articles

Update on Usher syndrome.

Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M.

Curr Opin Neurol. 2009 Feb;22(1):19-27. Review.PMID: 19165952 [PubMed - indexed for MEDLINE]Related articles

The frequency of the H402 allele of CFH and its involvement with age-related maculopathy in an aged Black African Xhosa population.

Ziskind A, Bardien S, van der Merwe L, Webster AR.

Ophthalmic Genet. 2008 Sep;29(3):117-9.PMID: 18766990 [PubMed - indexed for MEDLINE]Related articles

Clinical course and treatment outcomes of Sorsby fundus dystrophy.

Sivaprasad S, Webster AR, Egan CA, Bird AC, Tufail A.

Am J Ophthalmol. 2008 Aug;146(2):228-234. Epub 2008 May 23.PMID: 18501328 [PubMed - indexed for MEDLINE]Related articles

Phenotypic variation in enhanced S-cone syndrome.

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE.

Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93.PMID: 18436841 [PubMed - indexed for MEDLINE]Related articlesFree article

The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.

Stockman A, Smithson HE, Webster AR, Holder GE, Rana NA, Ripamonti C, Sharpe LT.

J Vis. 2008 Jan 17;8(1):10.1-10.PMID: 18318613 [PubMed - indexed for MEDLINE]Related articlesFree article

Evidence of retinal function using microperimetry following autologous retinal pigment epithelium-choroid graft in macular dystrophy.

Chen FK, Uppal GS, Rubin GS, Webster AR, Coffey PJ, Da Cruz L.

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3143-50. Epub 2008 Mar 3.PMID: 18316701 [PubMed - indexed for MEDLINE]Related articlesFree article

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.

Sivaprasad S, Kung BT, Robson AG, Black G, Webster AR, Bird A, Egan C.

Clin Experiment Ophthalmol. 2008 Jan-Feb;36(1):92-3. No abstract available. PMID: 18290960 [PubMed - indexed for MEDLINE]Related articles

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

Vaclavik V, Chakarova C, Bhattacharya SS, Robson AG, Holder GE, Bird AC, Webster AR.

Br J Ophthalmol. 2008 Feb;92(2):299-300. No abstract available. PMID: 18227217 [PubMed - indexed for MEDLINE]Related articles

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

Am J Hum Genet. 2008 Jan;82(1):19-31.PMID: 18179881 [PubMed - indexed for MEDLINE]Related articlesFree article

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9.PMID: 18055820 [PubMed - indexed for MEDLINE]Related articlesFree article

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

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

Michaelides M, Chen LL, Brantley MA Jr, Andorf JL, Isaak EM, Jenkins SA, Holder GE, Bird AC, Stone EM, Webster AR.

Br J Ophthalmol. 2007 Dec;91(12):1650-5.PMID: 18024811 [PubMed - indexed for MEDLINE]Related articles

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT.

J Med Genet. 2008 Mar;45(3):155-60. Epub 2007 Nov 15.PMID: 18006672 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.

Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE.

Doc Ophthalmol. 2008 Mar;116(2):79-89. Epub 2007 Nov 6. Review.PMID: 17985165 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW.

Br J Ophthalmol. 2008 Jan;92(1):95-102. Epub 2007 Oct 25.PMID: 17962389 [PubMed - indexed for MEDLINE]Related articles

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6.PMID: 17724214 [PubMed - indexed for MEDLINE]Related articlesFree article

Residual cone vision without alpha-transducin.

Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT.

J Vis. 2007 Mar 23;7(4):8.PMID: 17461692 [PubMed - indexed for MEDLINE]Related articlesFree article

Estimation of systemic complement C3 activity in age-related macular degeneration.

Sivaprasad S, Adewoyin T, Bailey TA, Dandekar SS, Jenkins S, Webster AR, Chong NV.

Arch Ophthalmol. 2007 Apr;125(4):515-9.PMID: 17420372 [PubMed - indexed for MEDLINE]Related articlesFree article

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy.

Vaclavik V, Ooi KG, Bird AC, Robson AG, Holder GE, Webster AR.

Arch Ophthalmol. 2007 Feb;125(2):274-7. No abstract available. PMID: 17296907 [PubMed - indexed for MEDLINE]Related articles

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A.

Am J Hum Genet. 2006 Dec;79(6):1059-70. Epub 2006 Oct 23. Erratum in: Am J Hum Genet. 2007 Feb;80(2):388. PMID: 17186464 [PubMed - indexed for MEDLINE]Related articlesFree article

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.PMID: 16963483 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR.

Am J Hum Genet. 2006 Sep;79(3):574-9. Epub 2006 Jul 24.PMID: 16909397 [PubMed - indexed for MEDLINE]Related articlesFree article

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3085-97.PMID: 16799055 [PubMed - indexed for MEDLINE]Related articlesFree article

Progressive retinal dysfunction in diffuse unilateral subacute neuroretinitis.

Audo I, Webster AR, Bird AC, Holder GE, Kidd MN.

Br J Ophthalmol. 2006 Jun;90(6):793-4. No abstract available. PMID: 16714269 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

Tschernutter M, Jenkins SA, Waseem NH, Saihan Z, Holder GE, Bird AC, Bhattacharya SS, Ali RR, Webster AR.

Br J Ophthalmol. 2006 Jun;90(6):718-23.PMID: 16714263 [PubMed - indexed for MEDLINE]Related articlesFree article

Does smoking influence the type of age related macular degeneration causing visual impairment?

Dandekar SS, Jenkins SA, Peto T, Bird AC, Webster AR.

Br J Ophthalmol. 2006 Jun;90(6):724-7. Epub 2006 Apr 5.PMID: 16597668 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

Robson AG, Saihan Z, Jenkins SA, Fitzke FW, Bird AC, Webster AR, Holder GE.

Br J Ophthalmol. 2006 Apr;90(4):472-9.PMID: 16547330 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe, unstable migraine: a risk factor for postoperative ophthalmic artery spasm?

Mehta JS, Gajdatsy A, Webster AR, Rose GE.

Orbit. 2006 Mar;25(1):65-7.PMID: 16527781 [PubMed - indexed for MEDLINE]Related articles

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.

Arora A, Minogue PJ, Liu X, Reddy MA, Ainsworth JR, Bhattacharya SS, Webster AR, Hunt DM, Ebihara L, Moore AT, Beyer EC, Berthoud VM.

J Med Genet. 2006 Jan;43(1):e2.PMID: 16397066 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional observations in vitamin A deficiency: diagnosis and time course of recovery.

McBain VA, Egan CA, Pieris SJ, Supramaniam G, Webster AR, Bird AC, Holder GE.

Eye (Lond). 2007 Mar;21(3):367-76. Epub 2005 Dec 9.PMID: 16341129 [PubMed - indexed for MEDLINE]Related articles

Autofluorescence imaging of choroidal neovascularization due to age-related macular degeneration.

Dandekar SS, Jenkins SA, Peto T, Scholl HP, Sehmi KS, Fitzke FW, Bird AC, Webster AR.

Arch Ophthalmol. 2005 Nov;123(11):1507-13.PMID: 16286612 [PubMed - indexed for MEDLINE]Related articles

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.

Ophthalmology. 2005 Aug;112(8):1442-7.PMID: 15953638 [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

Rapid assessment of microbial hazards in metalworking fluids.

Webster AR, Lee J, Deininger RA.

J Occup Environ Hyg. 2005 Apr;2(4):213-8.PMID: 15788382 [PubMed - indexed for MEDLINE]Related articles

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT.

Br J Ophthalmol. 2005 Mar;89(3):332-9.PMID: 15722315 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.

Kabanarou SA, Holder GE, Fitzke FW, Bird AC, Webster AR.

Br J Ophthalmol. 2004 Aug;88(8):1018-22.PMID: 15258017 [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

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

Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

Robson AG, El-Amir A, Bailey C, Egan CA, Fitzke FW, Webster AR, Bird AC, Holder GE.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3544-50.PMID: 12882805 [PubMed - indexed for MEDLINE]Related articlesFree article

Isolated foveal retinoschisis as a cause of visual loss in young females.

Kabanarou SA, Holder GE, Bird AC, Webster AR, Stanga PE, Vickers S, Harney BA.

Br J Ophthalmol. 2003 Jun;87(6):801-3. No abstract available. PMID: 12770998 [PubMed - indexed for MEDLINE]Related articlesFree article

Predictive DNA testing in ophthalmology: View 2.

Webster AR.

Br J Ophthalmol. 2003 May;87(5):635-6. No abstract available. PMID: 12714412 [PubMed - indexed for MEDLINE]Related articlesFree article

Predictive DNA testing in ophthalmology.

Mackey DA, Héon E, Webster AR.

Br J Ophthalmol. 2003 May;87(5):633. No abstract available. PMID: 12714411 [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

Genetic influence on early age-related maculopathy: a twin study.

Hammond CJ, Webster AR, Snieder H, Bird AC, Gilbert CE, Spector TD.

Ophthalmology. 2002 Apr;109(4):730-6.PMID: 11927430 [PubMed - indexed for MEDLINE]Related articles