124 related articles for article (PubMed ID: 31556760)
1. Retinal dystrophy associated with a Kizuna (
Zhao Y; Coussa RG; DeBenedictis MJM; Traboulsi EI
Ophthalmic Genet; 2019 Oct; 40(5):455-460. PubMed ID: 31556760
[No Abstract] [Full Text] [Related]
2. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S; Neuillé M; Terray A; Orhan E; Condroyer C; Démontant V; Michiels C; Antonio A; Boyard F; Lancelot ME; Letexier M; Saraiva JP; Léveillard T; Mohand-Saïd S; Goureau O; Sahel JA; Zeitz C; Audo I
Am J Hum Genet; 2014 Apr; 94(4):625-33. PubMed ID: 24680887
[TBL] [Abstract][Full Text] [Related]
3. Progressive RPE atrophy and photoreceptor death in
Lin Y; Xu CL; Breazzano MP; Tanaka AJ; Ryu J; Levi SR; Yao K; Sparrow JR; Tsang SH
Ophthalmic Genet; 2020 Feb; 41(1):26-30. PubMed ID: 32052671
[No Abstract] [Full Text] [Related]
4. Macular cysts in retinal dystrophy.
Ganesh A; Stroh E; Manayath GJ; Al-Zuhaibi S; Levin AV
Curr Opin Ophthalmol; 2011 Sep; 22(5):332-9. PubMed ID: 21730849
[TBL] [Abstract][Full Text] [Related]
5. Macular cystoid spaces in patients with retinal dystrophy.
Lingao MD; Ganesh A; Karthikeyan AS; Al Zuhaibi S; Al-Hosni A; Al Khayat A; Capasso J; Trumler AA; Stroh E; Al Shekaili H; Cater JR; Levin AV
Ophthalmic Genet; 2016 Dec; 37(4):377-383. PubMed ID: 26894784
[TBL] [Abstract][Full Text] [Related]
6. Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Warwick AN; Shawkat F; Lotery AJ
Ophthalmic Genet; 2017; 38(2):178-182. PubMed ID: 27176872
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.
Cordovez JA; Traboulsi EI; Capasso JE; Sadagopan KA; Ganesh A; Rychwalski PJ; Neely KA; Brodie SE; Levin AV
Ophthalmic Genet; 2015; 36(3):257-64. PubMed ID: 24512366
[TBL] [Abstract][Full Text] [Related]
9. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
El Shamieh S; Méjécase C; Bertelli M; Terray A; Michiels C; Condroyer C; Fouquet S; Sadoun M; Clérin E; Liu B; Léveillard T; Goureau O; Sahel JA; Audo I; Zeitz C
Genes (Basel); 2017 Oct; 8(10):. PubMed ID: 29057815
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A novel dominant CRX mutation causes adult-onset macular dystrophy.
Griffith JF; DeBenedictis MJ; Traboulsi EI
Ophthalmic Genet; 2018; 39(1):120-124. PubMed ID: 28945142
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Homozygous and heterozygous retinal phenotypes in families harbouring
Khan AO; Al Teneiji AM
Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
[No Abstract] [Full Text] [Related]
14. 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]
15. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
Simonelli F; Testa F; Zernant J; Nesti A; Rossi S; Rinaldi E; Allikmets R
Ophthalmic Res; 2004; 36(2):82-8. PubMed ID: 15017103
[TBL] [Abstract][Full Text] [Related]
16. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
[TBL] [Abstract][Full Text] [Related]
17. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.
Fu J; Ma L; Cheng J; Yang L; Wei C; Fu S; Lv H; Chen R; Fu J
J Cell Mol Med; 2018 Nov; 22(11):5662-5669. PubMed ID: 30160356
[TBL] [Abstract][Full Text] [Related]
18. Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentosa.
Grover S; Fishman GA; Fiscella RG; Adelman AE
Retina; 1997; 17(3):222-31. PubMed ID: 9196934
[TBL] [Abstract][Full Text] [Related]
19. Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA; Chen CV; Pfeifer W; Wiley JS; Wang K; Drack AV
Ophthalmic Genet; 2019 Aug; 40(4):350-358. PubMed ID: 31496370
[No Abstract] [Full Text] [Related]
20. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
