301 related articles for article (PubMed ID: 22661473)
1. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR; Fishman GA; Zernant J; Schubert C; Tsang SH; Smith RT; Ayyagari R; Koenekoop RK; Umfress A; Ciccarelli ML; Baldi A; Iannaccone A; Cremers FP; Klaver CC; Allikmets R
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4458-67. PubMed ID: 22661473
[TBL] [Abstract][Full Text] [Related]
2. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
Cella W; Greenstein VC; Zernant-Rajang J; Smith TR; Barile G; Allikmets R; Tsang SH
Exp Eye Res; 2009 Jun; 89(1):16-24. PubMed ID: 19217903
[TBL] [Abstract][Full Text] [Related]
3. The clinical effect of homozygous ABCA4 alleles in 18 patients.
Fujinami K; Sergouniotis PI; Davidson AE; Mackay DS; Tsunoda K; Tsubota K; Robson AG; Holder GE; Moore AT; Michaelides M; Webster AR
Ophthalmology; 2013 Nov; 120(11):2324-31. PubMed ID: 23769331
[TBL] [Abstract][Full Text] [Related]
4. Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.
Testa F; Rossi S; Sodi A; Passerini I; Di Iorio V; Della Corte M; Banfi S; Surace EM; Menchini U; Auricchio A; Simonelli F
Invest Ophthalmol Vis Sci; 2012 Jul; 53(8):4409-15. PubMed ID: 22661472
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic characteristics of late-onset Stargardt's disease.
Westeneng-van Haaften SC; Boon CJ; Cremers FP; Hoefsloot LH; den Hollander AI; Hoyng CB
Ophthalmology; 2012 Jun; 119(6):1199-210. PubMed ID: 22449572
[TBL] [Abstract][Full Text] [Related]
6. Expanding the Mutation Spectrum in
Nassisi M; Mohand-Saïd S; Dhaenens CM; Boyard F; Démontant V; Andrieu C; Antonio A; Condroyer C; Foussard M; Méjécase C; Eandi CM; Sahel JA; Zeitz C; Audo I
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30060493
[TBL] [Abstract][Full Text] [Related]
7. Early-onset stargardt disease: phenotypic and genotypic characteristics.
Lambertus S; van Huet RA; Bax NM; Hoefsloot LH; Cremers FP; Boon CJ; Klevering BJ; Hoyng CB
Ophthalmology; 2015 Feb; 122(2):335-44. PubMed ID: 25444351
[TBL] [Abstract][Full Text] [Related]
8. Variants in the
Salles MV; Motta FL; Martin R; Filippelli-Silva R; Dias da Silva E; Varela P; Costa KA; Chiang JP; Pesquero JB; Sallum JF
Mol Vis; 2018; 24():546-559. PubMed ID: 30093795
[TBL] [Abstract][Full Text] [Related]
9. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
Gerth C; Andrassi-Darida M; Bock M; Preising MN; Weber BH; Lorenz B
Graefes Arch Clin Exp Ophthalmol; 2002 Aug; 240(8):628-38. PubMed ID: 12192456
[TBL] [Abstract][Full Text] [Related]
10. Structural and genetic assessment of the ABCA4-associated optical gap phenotype.
Nõupuu K; Lee W; Zernant J; Tsang SH; Allikmets R
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7217-26. PubMed ID: 25301883
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES.
Khan AO
Retina; 2020 Jul; 40(7):1429-1433. PubMed ID: 31318848
[TBL] [Abstract][Full Text] [Related]
13. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Khan KN; Kasilian M; Mahroo OAR; Tanna P; Kalitzeos A; Robson AG; Tsunoda K; Iwata T; Moore AT; Fujinami K; Michaelides M
Ophthalmology; 2018 May; 125(5):735-746. PubMed ID: 29310964
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Klevering BJ; Deutman AF; Maugeri A; Cremers FP; Hoyng CB
Graefes Arch Clin Exp Ophthalmol; 2005 Feb; 243(2):90-100. PubMed ID: 15614537
[TBL] [Abstract][Full Text] [Related]
16. Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
Romano F; Lamanna F; Boon CJF; Siligato A; Kalra G; Agarwal A; Medori C; Bertelli M; Pellegrini M; Invernizzi A; Staurenghi G; Salvetti AP
Ophthalmol Retina; 2024 May; 8(5):509-519. PubMed ID: 37924945
[TBL] [Abstract][Full Text] [Related]
17. [Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene].
Sheremet NL; Grushke IG; Zhorzholadze NV; Ronzina IA; Mikaelyan AA; Kadyshev VV; Tanas AS; Anoshkin KI; Strelnikov VV
Vestn Oftalmol; 2019; 135(4):10-18. PubMed ID: 31573552
[TBL] [Abstract][Full Text] [Related]
18. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.
Huynh N; Jeffrey BG; Turriff A; Sieving PA; Cukras CA
Ophthalmic Genet; 2014 Mar; 35(1):51-6. PubMed ID: 24397708
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K; Zernant J; Chana RK; Wright GA; Tsunoda K; Ozawa Y; Tsubota K; Robson AG; Holder GE; Allikmets R; Michaelides M; Moore AT
Ophthalmology; 2015 Feb; 122(2):326-34. PubMed ID: 25312043
[TBL] [Abstract][Full Text] [Related]
20. Foveal sparing in Stargardt disease.
van Huet RA; Bax NM; Westeneng-Van Haaften SC; Muhamad M; Zonneveld-Vrieling MN; Hoefsloot LH; Cremers FP; Boon CJ; Klevering BJ; Hoyng CB
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7467-78. PubMed ID: 25324290
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]