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Michel Michaelides

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Kaoru Fujinami; Chris R Hogg; Graham E Holder; Noemi Lois; Mackay Donna; Anthony T Moore; Anthony G Robson; Edwin M Stone; Kazuo Tsubota; Kazushige Tsunoda; Andrew R Webster; Catey Bunce; Alice E Davidson; Michel Michaelides
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
Vasileios Soumplis; Graham E Holder; Michel Michaelides; Anthony T Moore; Anthony G Robson; Panagiotis I Sergouniotis; Andrew R Webster
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
Alice Davidson; Graham E Holder; Mackay Donna; Michel Michaelides; Anthony T Moore; Vincent Plagnol; Anthony G Robson; Panagiotis I Sergouniotis; Naushin Waseem; Genevieve A Wright; Andrew R Webster
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

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All Publications

2013: Kaoru Fujinami; Chris R Hogg; Graham E Holder; Noemi Lois; Mackay Donna; Anthony T Moore; Anthony G Robson; Edwin M Stone; Kazuo Tsubota; Kazushige Tsunoda; Andrew R Webster; Catey Bunce; Alice E Davidson; Michel Michaelides
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
American journal of ophthalmology 2013;155(6):1075-1088.e13.
2013: Vasileios Soumplis; Graham E Holder; Michel Michaelides; Anthony T Moore; Anthony G Robson; Panagiotis I Sergouniotis; Andrew R Webster
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
Acta ophthalmologica 2013;91(3):e191-5.
2013: Alice Davidson; Graham E Holder; Mackay Donna; Michel Michaelides; Anthony T Moore; Vincent Plagnol; Anthony G Robson; Panagiotis I Sergouniotis; Naushin Waseem; Genevieve A Wright; Andrew R Webster
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Human mutation 2013;34(3):506-14.
2013: Michelle McClements; Michel Michaelides; Anthony T Moore; Maureen Neitz; Terri Young; Wayne I L Davies; Robert E MacLaren; David M Hunt
Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.
Investigative ophthalmology & visual science 2013;54(2):1361-9.
2012: Tom R Webb; Ilaria Zito; Marina Apergi; Dalila Bevilacqua; Michael Cheetham; Alice E Davidson; Jessica C Gardner; Michael B Gorin; Naheed Kanuga; Ariadna Martinez; Michel Michaelides; David A Parfitt; Jacob H C Ressa; Nele Schwarz; Dawn L Thiselton; Alison J Hardcastle
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Human molecular genetics 2012;21(16):3647-54.
2012: Ranjan Rajendram; Catey Bunce; Catherine Egan; Simona Degli Esposti; Samantha Fraser-Bell; Robin D Hamilton; Andrew Kaines; Richard David Leslie; Michel Michaelides; Tunde Peto; Phillip G Hykin
A 2-year prospective randomized controlled trial of intravitreal bevacizumab or laser therapy (BOLT) in the management of diabetic macular edema: 24-month data: report 3.
Archives of ophthalmology 2012;130(8):972-9.
2012: Michel Michaelides; Glen Jeffery; Anthony T Moore
Developmental macular disorders: phenotypes and underlying molecular genetic basis.
The British journal of ophthalmology 2012;96(7):917-24.
2012: Mala Subash; Adnan Tufail; Andrew R Webster; Genevieve A Wright; Anthony T Moore; Bishwanath Pal; Anthony G Robson; Tryfonas Rotsos; Sophie Devery; Graham E Holder; Michel Michaelides
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
The British journal of ophthalmology 2012;96(5):719-22.
2012: Tom R Webb; Seyhan Yazar; Mahinda Yogarajah; Wei Ang; Tin Aung; Michael E Cheetham; Jessica C Gardner; Hala Hassan; Graham E Holder; Daniel Kelberman; Chiea C Khor; David A Mackey; Mar Matarin; Michel Michaelides; Anthony T Moore; Craig E Pennell; Anthony G Robson; Jonathan B Ruddle; Sanjay M Sisodiya; Jane C Sowden; Elias I Traboulsi; Stephen J Tuft; Alison J Hardcastle
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
American journal of human genetics 2012;90(2):247-59.
2012: Panagiotis I Sergouniotis; Andrew R Webster; Graham E Holder; Michel Michaelides; Anthony G Robson; Anthony T Moore
High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
The British journal of ophthalmology 2012;96(2):213-7.
2012: Mei Hong Tan; Dorothy A Thompson; Hoai Viet Tran; Andrew R Webster; Genevieve A Wright; Phillip Moradi; Anthony G Robson; Isabelle Russell-Eggitt; Alexander J Smith; Robin R Ali; Michael Cheetham; Jill Cowing; Arundhati Dev-Borman; Robert H Henderson; Mackay Donna; Robert E MacLaren; Michel Michaelides; Anthony T Moore
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PloS one 2012;7(3):e32330.
2011: Prateek K Buch; Marija Mihelec; Phillippa Cottrill; Susan E Wilkie; Rachael A Pearson; Yanai Duran; Emma L West; Michel Michaelides; Robin R Ali; David Hunt
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.
PloS one 2011;6(3):e18089.
2010: Michel Michaelides; Paul J Foster
Retinal vein occlusion and angle closure: a retrospective case series.
Journal of glaucoma 2010;19(9):643-9.
2010: Jessica C Gardner; Tom R Webb; Naheed Kanuga; Anthony G Robson; Graham Holder; Andrew Stockman; Caterina Ripamonti; Neil D Ebenezer; Olufunmilola Ogun; Sophie Devery; Genevieve A Wright; Eamonn R Maher; Michael Cheetham; Anthony T Moore; Michel Michaelides; Alison J Hardcastle
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
American journal of human genetics 2010;87(1):26-39.
2010: Michel Michaelides; Andrew Kaines; Robin D Hamilton; Samantha Fraser-Bell; Ranjan Rajendram; Fahd Quhill; Christopher J Boos; Wen Xing; Catherine Egan; Tunde Peto; Catey Bunce; richard leslie; Phillip G Hykin
A prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (BOLT study) 12-month data: report 2.
Ophthalmology 2010;117(6):1078-1086.e2.
2010: Michel Michaelides; Samantha Fraser-Bell; Robin Hamilton; Andrew Kaines; Catherine Egan; Catey Bunce; Tunde Peto; Phillip G Hykin
Macular perfusion determined by fundus fluorescein angiography at the 4-month time point in a prospective randomized trial of intravitreal bevacizumab or laser therapy in the management of diabetic macular edema (Bolt Study): Report 1.
Retina (Philadelphia, Pa.) 2010;30(5):781-6.
2010: Hiten G Sheth; Michel Michaelides; Dilani Siriwardena
Cystoid macular edema and visual loss as sequelae to interferon alpha treatment of systemic hepatitis C.
Indian journal of ophthalmology 2010;58(2):147-8.
2010: Esther Meyer; Michel Michaelides; Louise J Tee; Anthony G Robson; Fatimah Rahman; Shanaz Pasha; Linda M Luxon; Anthony T Moore; Eamonn R Maher
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Molecular vision 2010;16():650-64.
2010: Anthony G Robson; Andrew R Webster; Michel Michaelides; Susan M Downes; Jill A Cowing; David Hunt; Anthony T Moore; Graham E Holder
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Retina (Philadelphia, Pa.) 2010;30(1):51-62.
2010: Michel Michaelides; Zheng Li; Naheed A Rana; Emma C Richardson; Phil G Hykin; Anthony T Moore; Graham E Holder; Andrew R Webster
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
Ophthalmology 2010;117(1):120-127.e1.
2009: Zheng Li; Panagiotis I Sergouniotis; Michel Michaelides; Mackay Donna; Genevieve A Wright; Sophie Devery; Anthony T Moore; Graham E Holder; Anthony G Robson; Andrew R Webster
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
American journal of human genetics 2009;85(5):711-9.
2009: Daniel Ezra; RAJESH AGGARWAL; Michel Michaelides; Narciss Okhravi; Seema Verma; Larry Benjamin; Philip Bloom; Ara Darzi; Paul Sullivan
Skills acquisition and assessment after a microsurgical skills course for ophthalmology residents.
Ophthalmology 2009;116(2):257-62.
2009: Jessica C Gardner; Michel Michaelides; Graham Holder; Naheed Kanuga; Tom R Webb; John D Mollon; Anthony T Moore; Alison J Hardcastle
Blue cone monochromacy: causative mutations and associated phenotypes.
Molecular vision 2009;15():876-84.
2008: P P Rath; Sharon Jenkins; Michel Michaelides; A Smith; M G Sweeney; M B Davis; Frederick W Fitzke; Alan C Bird
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.
The British journal of ophthalmology 2008;92(5):623-9.
2008: Isabelle Audo; Michel Michaelides; Anthony G Robson; Marko Hawlina; Veronika Vaclavik; Jennifer M Sandbach; Magella Neveu; Chris R Hogg; David Hunt; Anthony T Moore; Alan C Bird; Andrew R Webster; Graham Holder
Phenotypic variation in enhanced S-cone syndrome.
Investigative ophthalmology & visual science 2008;49(5):2082-93.
2008: Michel Michaelides; Sharon A Jenkins; Doris-Eva Bamiou; Mary G Sweeney; Mary B Davis; Linda M Luxon; Alan C Bird; Pamela P Rath
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.
Archives of ophthalmology 2008;126(3):320-8.
2008: Anthony G Robson; Michel Michaelides; Zubin Saihan; Alan C Bird; Andrew R Webster; Anthony T Moore; Frederick W Fitzke; Graham Holder
Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.
Documenta ophthalmologica. Advances in ophthalmology 2008;116(2):79-89.
2008: Anthony G Robson; Michel Michaelides; Vy Luong; Graham Holder; Alan C Bird; Andrew R Webster; Anthony T Moore; Frederick W Fitzke
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
The British journal of ophthalmology 2008;92(1):95-102.
2007: Michel Michaelides; L L Chen; Milam A Brantley; J L Andorf; E M Isaak; Sharon A Jenkins; Graham Holder; Alan C Bird; E M Stone; Andrew R Webster
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.
The British journal of ophthalmology 2007;91(12):1650-5.
2007: Sanjay M Sisodiya; Pamela J Thompson; Anna Need; Sarah E Harris; Michael E Weale; Susan E Wilkie; Michel Michaelides; Samantha L Free; Nicole Walley; Curtis Gumbs; Dianne Gerrelli; Piers Ruddle; lawrence whalley; John M Starr; David Hunt; David B Goldstein; Ian J Deary; Anthony T Moore
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Journal of medical genetics 2007;44(6):373-80.
2007: Andrew Scott; Nicholas G Strouthidis; Anthony G Robson; Joan Forsyth; Eamonn R Maher; Patricio Schlottmann; Michel Michaelides
Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
American journal of ophthalmology 2007;143(2):346-8.
2007: Michel Michaelides; Catey Bunce; G G W Adams
Glaucoma following congenital cataract surgery--the role of early surgery and posterior capsulotomy.
BMC ophthalmology 2007;7():13.
2007: Andrew Stockman; Hannah E Smithson; Michel Michaelides; Anthony T Moore; Andrew R Webster; Lindsay T Sharpe
Residual cone vision without alpha-transducin.
Journal of vision 2007;7(4):8.
2006: Huimin Wu; Jill A Cowing; Michel Michaelides; Susan E Wilkie; Glen Jeffery; Sharon A Jenkins; Viktoria Mester; Alan C Bird; Anthony G Robson; Graham Holder; Anthony T Moore; David Hunt; Andrew R Webster
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
American journal of human genetics 2006;79(3):574-9.
2006: Michel Michaelides; Sharon A Jenkins; Milam A Brantley; Richard M Andrews; Naushin Waseem; Vy Luong; Kevin Gregory-Evans; Shomi S Bhattacharya; Frederick W Fitzke; Andrew R Webster
Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
Investigative ophthalmology & visual science 2006;47(7):3085-97.
2006: Michel Michaelides; Alison J Hardcastle; David Hunt; Anthony T Moore
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Survey of ophthalmology 2006;51(3):232-58.
2005: Michel Michaelides; Graham Holder; Keith Bradshaw; David Hunt; Anthony T Moore
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
Ophthalmology 2005;112(9):1592-8.
2005: Michel Michaelides; Samantha Johnson; Keith Bradshaw; Graham Holder; Matthew P Simunovic; John D Mollon; Anthony T Moore; David Hunt
X-linked cone dysfunction syndrome with myopia and protanopia.
Ophthalmology 2005;112(8):1448-54.
2005: Michel Michaelides; Susan E Wilkie; Sharon Jenkins; Graham Holder; David Hunt; Anthony T Moore; Andrew R Webster
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
Ophthalmology 2005;112(8):1442-7.
2005: Neil D Ebenezer; Michel Michaelides; Sharon A Jenkins; Isabelle Audo; Andrew R Webster; Michael Cheetham; Andrew Stockman; Eamonn R Maher; John R Ainsworth; John R Yates; Keith Bradshaw; Graham Holder; Anthony T Moore; Alison J Hardcastle
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Investigative ophthalmology & visual science 2005;46(6):1891-8.
2005: Michel Michaelides; Graham Holder; Andrew R Webster; David Hunt; Alan C Bird; Frederick W Fitzke; John D Mollon; Anthony T Moore
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
The British journal of ophthalmology 2005;89(3):332-9.
2005: Michel Michaelides; Graham Holder; David Hunt; Frederick W Fitzke; Alan C Bird; Anthony T Moore
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
The British journal of ophthalmology 2005;89(2):198-206.
2005: Michel Michaelides; Samantha Johnson; Matthew P Simunovic; Keith Bradshaw; Graham Holder; John D Mollon; Anthony T Moore; David Hunt
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.
Eye (London, England) 2005;19(1):2-10.
2004: Michel Michaelides; Anthony T Moore
The genetics of strabismus.
Journal of medical genetics 2004;41(9):641-6.
2004: Michel Michaelides; Irene A Aligianis; John R Ainsworth; Peter Good; John D Mollon; Eamonn R Maher; Anthony T Moore; David Hunt
Progressive cone dystrophy associated with mutation in CNGB3.
Investigative ophthalmology & visual science 2004;45(6):1975-82.
2004: Michel Michaelides; Graham Holder; Keith Bradshaw; David Hunt; John D Mollon; Anthony T Moore
Oligocone trichromacy: a rare and unusual cone dysfunction syndrome.
The British journal of ophthalmology 2004;88(4):497-500.
2004: Samantha Johnson; Michel Michaelides; Irene A Aligianis; John R Ainsworth; John D Mollon; Eamonn R Maher; Anthony T Moore; David Hunt
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Journal of medical genetics 2004;41(2):e20.
2004: Michel Michaelides; David Hunt; Anthony T Moore
The cone dysfunction syndromes.
The British journal of ophthalmology 2004;88(2):291-7.
2003: Michel Michaelides; Irene A Aligianis; Graham Holder; Matthew P Simunovic; John D Mollon; Eamonn R Maher; David Hunt; Anthony T Moore
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).
The British journal of ophthalmology 2003;87(11):1317-20.
2003: Michel Michaelides; David Hunt; Anthony T Moore
The genetics of inherited macular dystrophies.
Journal of medical genetics 2003;40(9):641-50.
2003: Michel Michaelides; Samantha Johnson; Alok K Tekriwal; Graham Holder; Caren Bellmann; Esther Kinning; Geoffrey Woodruff; Richard C Trembath; David Hunt; Anthony T Moore
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
Investigative ophthalmology & visual science 2003;44(5):2178-83.
2003: Michel Michaelides; Samantha Johnson; Arabella Poulson; Keith Bradshaw; Caren Bellmann; David Hunt; Anthony T Moore
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.
Investigative ophthalmology & visual science 2003;44(4):1657-62.
2002: Irene A Aligianis; Tim Forshew; Samantha Johnson; Michel Michaelides; Colin A Johnson; Richard C Trembath; David Hunt; Anthony T Moore; Eamonn R Maher
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
Journal of medical genetics 2002;39(9):656-60.