157 related articles for article (PubMed ID: 17237123)
1. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM; Thompson PJ; Need A; Harris SE; Weale ME; Wilkie SE; Michaelides M; Free SL; Walley N; Gumbs C; Gerrelli D; Ruddle P; Whalley LJ; Starr JM; Hunt DM; Goldstein DB; Deary IJ; Moore AT
J Med Genet; 2007 Jun; 44(6):373-80. PubMed ID: 17237123
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17962389
[TBL] [Abstract][Full Text] [Related]
3. Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Martin-Gutierrez MP; Schiff ER; Wright G; Waseem N; Mahroo OA; Michaelides M; Moore AT; Webster AR; Arno G;
Invest Ophthalmol Vis Sci; 2022 Aug; 63(9):14. PubMed ID: 35947379
[TBL] [Abstract][Full Text] [Related]
4. The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice.
Ding XQ; Nour M; Ritter LM; Goldberg AF; Fliesler SJ; Naash MI
Hum Mol Genet; 2004 Sep; 13(18):2075-87. PubMed ID: 15254014
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM
Hum Mol Genet; 1998 Jul; 7(7):1179-84. PubMed ID: 9618177
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 12359607
[TBL] [Abstract][Full Text] [Related]
7. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Aleman TS; Cideciyan AV; Volpe NJ; Stevanin G; Brice A; Jacobson SG
Exp Eye Res; 2002 Jun; 74(6):737-45. PubMed ID: 12126946
[TBL] [Abstract][Full Text] [Related]
8. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M; Gaillard MC; Escher P; Tiab L; Bedell M; Borruat FX; Barthelmes D; Carmona R; Zhang K; White E; McClements M; Robson AG; Holder GE; Bradshaw K; Hunt DM; Webster AR; Moore AT; Schorderet DF; Munier FL
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4771-80. PubMed ID: 20393116
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 15665353
[TBL] [Abstract][Full Text] [Related]
10. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
Li L; Nakaya N; Chavali VR; Ma Z; Jiao X; Sieving PA; Riazuddin S; Tomarev SI; Ayyagari R; Riazuddin SA; Hejtmancik JF
Am J Hum Genet; 2010 Sep; 87(3):400-9. PubMed ID: 20797688
[TBL] [Abstract][Full Text] [Related]
11. Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.
Rühle F; Witten A; Barysenka A; Huge A; Arning A; Heller C; Krümpel A; Mesters R; Franke A; Lieb W; Riemenschneider M; Hiersche M; Limperger V; Nowak-Göttl U; Stoll M
Blood; 2017 Feb; 129(6):783-790. PubMed ID: 28011674
[TBL] [Abstract][Full Text] [Related]
12. ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH; Ma Y; Li ML; Zhou XY; Mou H; Jin ZB
Hum Genet; 2020 Nov; 139(11):1391-1401. PubMed ID: 32440726
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 16019073
[TBL] [Abstract][Full Text] [Related]
14. Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
Collery RF; Cederlund ML; Kennedy BN
Exp Eye Res; 2013 Mar; 108():120-8. PubMed ID: 23328348
[TBL] [Abstract][Full Text] [Related]
15. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Duncan JL; Talcott KE; Ratnam K; Sundquist SM; Lucero AS; Day S; Zhang Y; Roorda A
Invest Ophthalmol Vis Sci; 2011 Mar; 52(3):1557-66. PubMed ID: 21071739
[TBL] [Abstract][Full Text] [Related]
16. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
Abad-Morales V; Burés-Jelstrup A; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcóstegui B; Pomares E
Exp Eye Res; 2019 Oct; 187():107752. PubMed ID: 31394102
[TBL] [Abstract][Full Text] [Related]
17. A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Cohen B; Chervinsky E; Jabaly-Habib H; Shalev SA; Briscoe D; Ben-Yosef T
Mol Vis; 2012; 18():2915-21. PubMed ID: 23233793
[TBL] [Abstract][Full Text] [Related]
18. Genetic disruption of bassoon in two mutant mouse lines causes divergent retinal phenotypes.
Ryl M; Urbasik A; Gierke K; Babai N; Joachimsthaler A; Feigenspan A; Frischknecht R; Stallwitz N; Fejtová A; Kremers J; von Wittgenstein J; Brandstätter JH
FASEB J; 2021 May; 35(5):e21520. PubMed ID: 33811381
[TBL] [Abstract][Full Text] [Related]
19. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Liang J; She X; Chen J; Zhai Y; Liu Y; Zheng K; Gong Y; Zhu H; Luo X; Sun X
Graefes Arch Clin Exp Ophthalmol; 2019 Mar; 257(3):619-628. PubMed ID: 30588538
[TBL] [Abstract][Full Text] [Related]
20. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M; Ullah E; Yousaf S; Brooks BP; Hufnagel RB; Huryn LA
Invest Ophthalmol Vis Sci; 2020 Oct; 61(12):1. PubMed ID: 33001157
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
