173 related articles for article (PubMed ID: 27820952)
1. The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
Fakin A; Robson AG; Chiang JP; Fujinami K; Moore AT; Michaelides M; Holder GE; Webster AR
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):5963-5973. PubMed ID: 27820952
[TBL] [Abstract][Full Text] [Related]
2. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Fakin A; Robson AG; Fujinami K; Moore AT; Michaelides M; Pei-Wen Chiang J; E Holder G; Webster AR
Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4668-78. PubMed ID: 27583828
[TBL] [Abstract][Full Text] [Related]
3. Full-field ERG as a predictor of the natural course of
Schroeder M; Kjellström U
Mol Vis; 2018; 24():1-16. PubMed ID: 29386879
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.
Müller PL; Gliem M; McGuinnes M; Birtel J; Holz FG; Charbel Issa P
Am J Ophthalmol; 2021 Feb; 222():340-350. PubMed ID: 32891696
[TBL] [Abstract][Full Text] [Related]
8. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Robson AG; Webster AR; Michaelides M; Downes SM; Cowing JA; Hunt DM; Moore AT; Holder GE
Retina; 2010 Jan; 30(1):51-62. PubMed ID: 19952985
[TBL] [Abstract][Full Text] [Related]
9. A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A; Robson AG; Neveu MM; Wright GA; Moore AT; Webster AR; Holder GE
Ophthalmology; 2013 Jul; 120(7):1454-64. PubMed ID: 23453514
[TBL] [Abstract][Full Text] [Related]
10. Reduced macular function in ABCA4 carriers.
Kjellström U
Mol Vis; 2015; 21():767-82. PubMed ID: 26261413
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Retinal phenotypic characterization of patients with
López-Rubio S; Chacon-Camacho OF; Matsui R; Guadarrama-Vallejo D; Astiazarán MC; Zenteno JC
Mol Vis; 2018; 24():105-114. PubMed ID: 29422768
[TBL] [Abstract][Full Text] [Related]
13. Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the
Sajovic J; Meglič A; Volk M; Maver A; Jarc-Vidmar M; Hawlina M; Fakin A
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833218
[TBL] [Abstract][Full Text] [Related]
14. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
Collison FT; Park JC; Fishman GA; Stone EM; McAnany JJ
Doc Ophthalmol; 2016 Jun; 132(3):157-66. PubMed ID: 27033713
[TBL] [Abstract][Full Text] [Related]
15. Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.
Lee W; Schuerch K; Xie Y; Zernant J; Tsang SH; Sparrow JR; Allikmets R
Invest Ophthalmol Vis Sci; 2016 Jun; 57(7):3409-15. PubMed ID: 27367509
[TBL] [Abstract][Full Text] [Related]
16. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
Sustar M; Perovšek D; Cima I; Stirn-Kranjc B; Hawlina M; Brecelj J
Doc Ophthalmol; 2015 Jun; 130(3):165-77. PubMed ID: 25663266
[TBL] [Abstract][Full Text] [Related]
17. CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.
Heath Jeffery RC; Thompson JA; Lamey TM; McLaren TL; McAllister IL; Constable IJ; Mackey DA; De Roach JN; Chen FK
Retina; 2021 Dec; 41(12):2578-2588. PubMed ID: 34125082
[TBL] [Abstract][Full Text] [Related]
18. Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
Oh KT; Weleber RG; Stone EM; Oh DM; Rosenow J; Billingslea AM
Retina; 2004 Dec; 24(6):920-8. PubMed ID: 15579991
[TBL] [Abstract][Full Text] [Related]
19. Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
Park SP; Hong IH; Tsang SH; Lee W; Horowitz J; Yzer S; Allikmets R; Chang S
Graefes Arch Clin Exp Ophthalmol; 2013 Oct; 251(10):2299-309. PubMed ID: 23604511
[TBL] [Abstract][Full Text] [Related]
20. A five-year follow-up of
Kjellström U; Andréasson S
Mol Vis; 2022; 28():300-316. PubMed ID: 36338671
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
