145 related articles for article (PubMed ID: 36094084)
1. Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
Yanık Ö; Batıoğlu F; Sahin Y; Demirel S; Özmert E
Ophthalmic Genet; 2023 Aug; 44(4):389-395. PubMed ID: 36094084
[TBL] [Abstract][Full Text] [Related]
2. A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.
Hayashi T; Mizobuchi K; Kameya S; Ueno S; Matsuura T; Nakano T
Doc Ophthalmol; 2023 Aug; 147(1):59-70. PubMed ID: 37227616
[TBL] [Abstract][Full Text] [Related]
3. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S; Fujinami K; Ueno S; Hayashi T; Kuniyoshi K; Ideta R; Kikuchi S; Kubota D; Yoshitake K; Katagiri S; Sakuramoto H; Kominami T; Terasaki H; Yang L; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Miyake Y; Iwata T; Tsunoda K;
Invest Ophthalmol Vis Sci; 2019 Aug; 60(10):3432-3446. PubMed ID: 31390656
[TBL] [Abstract][Full Text] [Related]
4. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A; Ueno S; Kominami T; Nakanishi A; Ito Y; Fujinami K; Tsunoda K; Hayashi T; Kikuchi S; Kameya S; Iwata T; Terasaki H
Ophthalmic Genet; 2018 Apr; 39(2):255-262. PubMed ID: 29220607
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic and genotypic features of
Alzahem TA; AlTheeb A; Ba-Abbad R
Ophthalmic Genet; 2024 Feb; 45(1):72-77. PubMed ID: 37246743
[TBL] [Abstract][Full Text] [Related]
6. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
Cho SC; Woo SJ; Park KH; Hwang JM
Korean J Ophthalmol; 2013 Feb; 27(1):19-27. PubMed ID: 23372375
[TBL] [Abstract][Full Text] [Related]
7. A homozygous
Peturson AC; Noel NCL; MacDonald IM
Ophthalmic Genet; 2021 Jun; 42(3):349-353. PubMed ID: 33657974
[No Abstract] [Full Text] [Related]
8. Non-Paraneoplastic Autoimmune Retinopathy: The First Case Report in Korea.
Choi EY; Kim M; Adamus G; Koh HJ; Lee SC
Yonsei Med J; 2016 Mar; 57(2):527-31. PubMed ID: 26847311
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Gao Y; Ren X; Lin H; Li K; Xiao L; Wang X; Zeng Z; Ran R; Tao Y; Lin Y; Fu X; Yan N; Zhang M
Eye (Lond); 2023 Aug; 37(12):2461-2469. PubMed ID: 36509996
[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. Long-term follow-up of a patient with JAG1-associated retinopathy.
Cheema MR; Stone LG; Sellar PW; Quinn S; Clark SC; Martin RJ; O'Brien JM; Warriner C; Browning AC
Doc Ophthalmol; 2021 Oct; 143(2):237-247. PubMed ID: 33877487
[TBL] [Abstract][Full Text] [Related]
12. Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Zenteno JC; Arce-Gonzalez R; Matsui R; Lopez-Bolaños A; Montes L; Martinez-Aguilar A; Chacon-Camacho OF
Graefes Arch Clin Exp Ophthalmol; 2023 Feb; 261(2):353-365. PubMed ID: 35947183
[TBL] [Abstract][Full Text] [Related]
13. Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
Ozawa K; Mochizuki K; Manabe Y; Yoshikura N; Shimohata T; Nishino I; Goto YI
Doc Ophthalmol; 2019 Apr; 138(2):147-152. PubMed ID: 30701423
[TBL] [Abstract][Full Text] [Related]
14. Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy.
Monferrer-Adsuara C; Montero-Hernández J; Castro-Navarro V; Remolí-Sargues L; Cervera-Taulet E
Optom Vis Sci; 2022 Feb; 99(2):195-201. PubMed ID: 34897229
[TBL] [Abstract][Full Text] [Related]
15. Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy.
Baek J; Lee HK; Kim US
Doc Ophthalmol; 2013 Jun; 126(3):247-51. PubMed ID: 23456543
[TBL] [Abstract][Full Text] [Related]
16. A rare case of
Mermeklieva E; Kamenarova K; Mihova K; Shakola F; Kaneva R
Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
[TBL] [Abstract][Full Text] [Related]
17. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S; Lamers IJ; de Vrieze E; van den Born LI; Lambertus S; Arts HH; ; Peters TA; Hoyng CB; Kremer H; Hetterschijt L; Letteboer SJ; van Wijk E; Roepman R; den Hollander AI; Cremers FP
Am J Hum Genet; 2014 Aug; 95(2):131-42. PubMed ID: 25018096
[TBL] [Abstract][Full Text] [Related]
18. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients.
Lima LH; Sallum JM; Spaide RF
Retina; 2013 Oct; 33(9):1877-80. PubMed ID: 23648999
[TBL] [Abstract][Full Text] [Related]
19. Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
Minnella AM; Pagliei V; Savastano MC; Federici M; Bertelli M; Maltese PE; Placidi G; Corbo G; Falsini B; Caporossi A
J Med Case Rep; 2018 Oct; 12(1):287. PubMed ID: 30285900
[TBL] [Abstract][Full Text] [Related]
20. Multimodal imaging of a case of peripheral cone dystrophy.
Ito N; Kameya S; Gocho K; Hayashi T; Kikuchi S; Katagiri S; Gekka T; Yamaki K; Takahashi H; Tsuneoka H
Doc Ophthalmol; 2015 Jun; 130(3):241-51. PubMed ID: 25708979
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
