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Page 1
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG. Boye SE, et al. Among authors: swaroop a. PLoS One. 2014 Mar 26;9(3):e92928. doi: 10.1371/journal.pone.0092928. eCollection 2014. PLoS One. 2014. PMID: 24671090 Free PMC article.
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Among authors: swaroop a. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. Hayward C, et al. Among authors: swaroop a. Hum Mol Genet. 2003 Oct 15;12(20):2657-67. doi: 10.1093/hmg/ddg289. Epub 2003 Aug 27. Hum Mol Genet. 2003. PMID: 12944416
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ. Wang QL, et al. Among authors: swaroop a. Hum Mol Genet. 2004 May 15;13(10):1025-40. doi: 10.1093/hmg/ddh117. Epub 2004 Mar 17. Hum Mol Genet. 2004. PMID: 15028672
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. Wright AF, et al. Among authors: swaroop a. Hum Mutat. 2004 Nov;24(5):439. doi: 10.1002/humu.9285. Hum Mutat. 2004. PMID: 15459973
459 results