PubMed

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

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.

Br J Ophthalmol. 2005 Feb;89(2):198-206.PMID: 15665353 [PubMed - indexed for MEDLINE]Related articlesFree article

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.PMID: 12359607 [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

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7.PMID: 18235024 [PubMed - indexed for MEDLINE]Related articlesFree article

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82.PMID: 15161866 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.

Ophthalmology. 2005 Sep;112(9):1592-8.PMID: 16019073 [PubMed - indexed for MEDLINE]Related articles

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT.

Br J Ophthalmol. 2003 Nov;87(11):1317-20. Erratum in: Br J Ophthalmol. 2004 Feb;88(2):314. PMID: 14609822 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotype in two families with RP3 associated with RPGR mutations.

Lorenz B, Andrassi M, Kretschmann U.

Ophthalmic Genet. 2003 Jun;24(2):89-101.PMID: 12789573 [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 NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.

Ophthalmology. 2005 Dec;112(12):2115. Epub 2005 Oct 12.PMID: 16225923 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.PMID: 17320181 [PubMed - indexed for MEDLINE]Related articles

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.

Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.

Arch Ophthalmol. 1995 Feb;113(2):195-201.PMID: 7864751 [PubMed - indexed for MEDLINE]Related articles

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.

Br J Ophthalmol. 2008 Aug;92(8):1086-91.PMID: 18653602 [PubMed - indexed for MEDLINE]Related articles

Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system.

Kondo M, Miyake Y, Kondo N, Ueno S, Takakuwa H, Terasaki H.

Ophthalmology. 2004 Apr;111(4):732-9.PMID: 15051206 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.

Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J.

Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3134-44.PMID: 8045708 [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

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

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

Tzekov RT, Sohocki MM, Daiger SP, Birch DG.

Ophthalmic Genet. 2000 Jun;21(2):89-99.PMID: 10916183 [PubMed - indexed for MEDLINE]Related articles