621 related articles for article (PubMed ID: 23788369)
1. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
van Huet RA; Estrada-Cuzcano A; Banin E; Rotenstreich Y; Hipp S; Kohl S; Hoyng CB; den Hollander AI; Collin RW; Klevering BJ
Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4683-90. PubMed ID: 23788369
[TBL] [Abstract][Full Text] [Related]
2. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
[TBL] [Abstract][Full Text] [Related]
3. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA; Siemiatkowska AM; Özgül RK; Yücel D; Hoyng CB; Banin E; Blumenfeld A; Rotenstreich Y; Riemslag FC; den Hollander AI; Theelen T; Collin RW; van den Born LI; Klevering BJ
Acta Ophthalmol; 2015 Feb; 93(1):83-94. PubMed ID: 25385675
[TBL] [Abstract][Full Text] [Related]
4. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
[TBL] [Abstract][Full Text] [Related]
6. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
7. Wide-field fundus autofluorescence abnormalities and visual function in patients with cone and cone-rod dystrophies.
Oishi M; Oishi A; Ogino K; Makiyama Y; Gotoh N; Kurimoto M; Yoshimura N
Invest Ophthalmol Vis Sci; 2014 May; 55(6):3572-7. PubMed ID: 24845635
[TBL] [Abstract][Full Text] [Related]
8. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
[TBL] [Abstract][Full Text] [Related]
9. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
Birch DG; Anderson JL; Fish GE
Ophthalmology; 1999 Feb; 106(2):258-68. PubMed ID: 9951474
[TBL] [Abstract][Full Text] [Related]
10. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T; Friedman JS; Ponjavic V; Abrahamson M; Swaroop A; Andréasson S
Arch Ophthalmol; 2010 Jun; 128(6):772-8. PubMed ID: 20547956
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. RP cone-rod degeneration.
Heckenlively JR
Trans Am Ophthalmol Soc; 1987; 85():438-70. PubMed ID: 3447340
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
Oh KT; Oh DM; Weleber RG; Stone EM; Parikh A; White J; Deboer-Shields KA; Streb L; Vallar C
Br J Ophthalmol; 2004 Dec; 88(12):1533-7. PubMed ID: 15548806
[TBL] [Abstract][Full Text] [Related]
15. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Lorenz B; Gyürüs P; Preising M; Bremser D; Gu S; Andrassi M; Gerth C; Gal A
Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2735-42. PubMed ID: 10937591
[TBL] [Abstract][Full Text] [Related]
16. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
[TBL] [Abstract][Full Text] [Related]
17. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
[TBL] [Abstract][Full Text] [Related]
18. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS; Soumittra N; Cideciyan AV; Sumaroka AM; Ramprasad VL; Herrera W; Windsor EA; Schwartz SB; Russell RC; Roman AJ; Inglehearn CF; Kumaramanickavel G; Stone EM; Fishman GA; Jacobson SG
Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5944-54. PubMed ID: 19578027
[TBL] [Abstract][Full Text] [Related]
19. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
[TBL] [Abstract][Full Text] [Related]
20. Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
Kim C; Chung H; Yu HG
Ophthalmic Genet; 2012 Jun; 33(2):96-9. PubMed ID: 22217031
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
