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Page 1
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Jacobson SG, et al. Among authors: kimberling wj. Invest Ophthalmol Vis Sci. 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. Invest Ophthalmol Vis Sci. 2011. PMID: 21873662 Free PMC article.
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG. Herrera W, et al. Among authors: kimberling wj. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15. Invest Ophthalmol Vis Sci. 2008. PMID: 18281613
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Jacobson SG, et al. Among authors: kimberling wj. Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7. Hum Mol Genet. 2008. PMID: 18463160 Free PMC article.
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ. Weston MD, et al. Among authors: kimberling wj. Am J Hum Genet. 1996 Nov;59(5):1074-83. Am J Hum Genet. 1996. PMID: 8900236 Free PMC article.
Kinetics of visual field loss in Usher syndrome Type II.
Iannaccone A, Kritchevsky SB, Ciccarelli ML, Tedesco SA, Macaluso C, Kimberling WJ, Somes GW. Iannaccone A, et al. Among authors: kimberling wj. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92. doi: 10.1167/iovs.03-0906. Invest Ophthalmol Vis Sci. 2004. PMID: 14985291
Analysis of DNA elements that modulate myosin VIIA expression in humans.
Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ. Orten DJ, et al. Among authors: kimberling wj. Hum Mutat. 1999 Oct;14(4):354. doi: 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1999. PMID: 10502787 Corrected and republished.
231 results