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Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Downs LM, Scott EM, Cideciyan AV, Iwabe S, Dufour V, Gardiner KL, Genini S, Marinho LF, Sumaroka A, Kosyk MS, Swider M, Aguirre GK, Jacobson SG, Beltran WA, Aguirre GD. Downs LM, et al. Among authors: aguirre gd, aguirre gk. Hum Mol Genet. 2016 Oct 1;25(19):4211-4226. doi: 10.1093/hmg/ddw254. Epub 2016 Aug 9. Hum Mol Genet. 2016. PMID: 27506978 Free PMC article.
Gene therapy restores vision in a canine model of childhood blindness.
Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Acland GM, et al. Among authors: aguirre gd. Nat Genet. 2001 May;28(1):92-5. doi: 10.1038/ng0501-92. Nat Genet. 2001. PMID: 11326284
Concentric retinitis pigmentosa: clinicopathologic correlations.
Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG. Milam AH, et al. Among authors: aguirre gd. Exp Eye Res. 2001 Oct;73(4):493-508. doi: 10.1006/exer.2001.1059. Exp Eye Res. 2001. PMID: 11825021 Free article.
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa.
Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Kijas JW, et al. Among authors: aguirre gd. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6328-33. doi: 10.1073/pnas.082714499. Epub 2002 Apr 23. Proc Natl Acad Sci U S A. 2002. PMID: 11972042 Free PMC article.
330 results