136 related articles for article (PubMed ID: 29377742)
1. Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
Jin X; Chen L; Wang D; Zhang Y; Chen Z; Huang H
Ophthalmic Genet; 2018 Jun; 39(3):300-306. PubMed ID: 29377742
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu YK; Köroğlu Ç; Tolun A
JAMA Ophthalmol; 2014 Oct; 132(10):1185-91. PubMed ID: 24945461
[TBL] [Abstract][Full Text] [Related]
4. A homozygous
Peturson AC; Noel NCL; MacDonald IM
Ophthalmic Genet; 2021 Jun; 42(3):349-353. PubMed ID: 33657974
[No Abstract] [Full Text] [Related]
5. GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Jiang F; Xu K; Zhang X; Xie Y; Bai F; Li Y
Doc Ophthalmol; 2015 Oct; 131(2):105-14. PubMed ID: 26298565
[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 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]
8. 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]
9. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical Characteristics of
Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
[TBL] [Abstract][Full Text] [Related]
12. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
[TBL] [Abstract][Full Text] [Related]
13. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Xi Q; Li L; Traboulsi EI; Wang QK
Mol Vis; 2009; 15():638-45. PubMed ID: 19352439
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.
Wang Y; Liu S; Zhai Y; Liu Y; Wan X; Wang W; Wang F; Sun X
BMC Ophthalmol; 2021 Nov; 21(1):401. PubMed ID: 34800980
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
Kurata K; Hosono K; Hotta Y
Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
[TBL] [Abstract][Full Text] [Related]
17. Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.
Wei C; Xiao T; Cheng J; Fu J; Zhou Q; Yang L; Lv H; Fu J
Biosci Rep; 2020 Jun; 40(6):. PubMed ID: 32436957
[TBL] [Abstract][Full Text] [Related]
18. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
Kubota D; Gocho K; Kikuchi S; Akeo K; Miura M; Yamaki K; Takahashi H; Kameya S
Ophthalmic Genet; 2018 Aug; 39(4):500-507. PubMed ID: 29718797
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Bardet-Biedl syndrome-7 (
Aleman TS; O'Neil EC; O'Connor K; Jiang YY; Aleman IA; Bennett J; Morgan JIW; Toussaint BW
Ophthalmic Genet; 2021 Jun; 42(3):252-265. PubMed ID: 33729075
[No Abstract] [Full Text] [Related]
[Next] [New Search]
