254 related articles for article (PubMed ID: 25270190)
1. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
[TBL] [Abstract][Full Text] [Related]
2. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
Zou X; Yao F; Liang X; Xu F; Li H; Sui R; Dong F
Ophthalmic Genet; 2015 Mar; 36(1):21-6. PubMed ID: 24001014
[TBL] [Abstract][Full Text] [Related]
3. Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG; Joo K; Han J; Choi M; Kim SW; Park KH; Park SJ; Lee CS; Byeon SH; Woo SJ
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239417
[TBL] [Abstract][Full Text] [Related]
4. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z; Xiao X; Li S; Sun W; Zhang Q
Exp Eye Res; 2019 Dec; 189():107846. PubMed ID: 31626798
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. Incomplete penetrance of
Chapi M; Sabbaghi H; Suri F; Alehabib E; Rahimi-Aliabadi S; Jamali F; Jamshidi J; Emamalizadeh B; Darvish H; Mirrahimi M; Ahmadieh H; Daftarian N
Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
[No Abstract] [Full Text] [Related]
8. Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
D'Esposito F; Cennamo G; de Crecchio G; Maltese PE; Cecchin S; Bertelli M; Ziccardi L; Esposito Veneruso P; Magli A; Cennamo G; Cordeiro MF
Ophthalmic Res; 2018; 60(3):169-175. PubMed ID: 30078014
[TBL] [Abstract][Full Text] [Related]
9. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
[TBL] [Abstract][Full Text] [Related]
10. Heterozygous
Ng CC; Carrera WM; McDonald HR; Agarwal A
Ophthalmic Genet; 2020 Oct; 41(5):485-490. PubMed ID: 32689858
[TBL] [Abstract][Full Text] [Related]
11. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM; Sullivan LS; Mintz-Hittner HA; Birch D; Heckenlively JR; Freund CL; McInnes RR; Daiger SP
Am J Hum Genet; 1998 Nov; 63(5):1307-15. PubMed ID: 9792858
[TBL] [Abstract][Full Text] [Related]
12. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
[TBL] [Abstract][Full Text] [Related]
13. Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
Hull S; Kiray G; Chiang JP; Vincent AL
Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):708-717. PubMed ID: 32856788
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Nishiguchi KM; Kunikata H; Fujita K; Hashimoto K; Koyanagi Y; Akiyama M; Ikeda Y; Momozawa Y; Sonoda KH; Murakami A; Wada Y; Nakazawa T
Clin Exp Ophthalmol; 2020 Jul; 48(5):644-657. PubMed ID: 32112665
[TBL] [Abstract][Full Text] [Related]
16. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Jacobson SG; Cideciyan AV; Huang Y; Hanna DB; Freund CL; Affatigato LM; Carr RE; Zack DJ; Stone EM; McInnes RR
Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
[TBL] [Abstract][Full Text] [Related]
17. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y
Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
[TBL] [Abstract][Full Text] [Related]
18. A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous
Khan AO; Neri P; Al Teneiji AM
Ophthalmic Genet; 2019 Dec; 40(6):493-499. PubMed ID: 31743059
[No Abstract] [Full Text] [Related]
19. Biallelic
Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
[TBL] [Abstract][Full Text] [Related]
20. Preserved visual function in retinal dystrophy due to hypomorphic
Hull S; Holder GE; Robson AG; Mukherjee R; Michaelides M; Webster AR; Moore AT
Br J Ophthalmol; 2016 Nov; 100(11):1499-1505. PubMed ID: 26906952
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]