These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
199 related articles for article (PubMed ID: 27775217)
1. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Aukrust I; Jansson RW; Bredrup C; Rusaas HE; Berland S; Jørgensen A; Haug MG; Rødahl E; Houge G; Knappskog PM Acta Ophthalmol; 2017 May; 95(3):240-246. PubMed ID: 27775217 [TBL] [Abstract][Full Text] [Related]
2. ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing. Jonsson F; Westin IM; Österman L; Sandgren O; Burstedt M; Holmberg M; Golovleva I Acta Ophthalmol; 2018 Nov; 96(7):737-743. PubMed ID: 29461686 [TBL] [Abstract][Full Text] [Related]
3. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Sangermano R; Bax NM; Bauwens M; van den Born LI; De Baere E; Garanto A; Collin RW; Goercharn-Ramlal AS; den Engelsman-van Dijk AH; Rohrschneider K; Hoyng CB; Cremers FP; Albert S Ophthalmology; 2016 Jun; 123(6):1375-85. PubMed ID: 26976702 [TBL] [Abstract][Full Text] [Related]
4. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318 [TBL] [Abstract][Full Text] [Related]
5. The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease. Tanaka K; Lee W; Zernant J; Schuerch K; Ciccone L; Tsang SH; Sparrow JR; Allikmets R Ophthalmology; 2018 Jan; 125(1):89-99. PubMed ID: 28947085 [TBL] [Abstract][Full Text] [Related]
6. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Garces F; Jiang K; Molday LL; Stöhr H; Weber BH; Lyons CJ; Maberley D; Molday RS Invest Ophthalmol Vis Sci; 2018 May; 59(6):2305-2315. PubMed ID: 29847635 [TBL] [Abstract][Full Text] [Related]
7. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. Schulz HL; Grassmann F; Kellner U; Spital G; Rüther K; Jägle H; Hufendiek K; Rating P; Huchzermeyer C; Baier MJ; Weber BH; Stöhr H Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):394-403. PubMed ID: 28118664 [TBL] [Abstract][Full Text] [Related]
12. Molecular Analysis of the Ścieżyńska A; Soszyńska M; Komorowski M; Podgórska A; Krześniak N; Nogowska A; Smolińska M; Szulborski K; Szaflik JP; Noszczyk B; Ołdak M; Malejczyk J Int J Mol Sci; 2020 May; 21(10):. PubMed ID: 32413971 [No Abstract] [Full Text] [Related]
13. Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. Abed E; Placidi G; Campagna F; Federici M; Minnella A; Guerri G; Bertelli M; Piccardi M; Galli-Resta L; Falsini B Clin Exp Ophthalmol; 2018 Jul; 46(5):519-530. PubMed ID: 29178665 [TBL] [Abstract][Full Text] [Related]
14. Identification of novel pathogenic Xiang Q; Cao Y; Xu H; Guo Y; Yang Z; Xu L; Yuan L; Deng H Biosci Rep; 2019 Jan; 39(1):. PubMed ID: 30563929 [TBL] [Abstract][Full Text] [Related]
15. ABCA4 gene screening by next-generation sequencing in a British cohort. Fujinami K; Zernant J; Chana RK; Wright GA; Tsunoda K; Ozawa Y; Tsubota K; Webster AR; Moore AT; Allikmets R; Michaelides M Invest Ophthalmol Vis Sci; 2013 Oct; 54(10):6662-74. PubMed ID: 23982839 [TBL] [Abstract][Full Text] [Related]