Sheffield VC - Search Results

1

Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.

Pinto LH, Vitaterna MH, Shimomura K, Siepka SM, McDearmon EL, Fenner D, Lumayag SL, Omura C, Andrews AW, Baker M, Invergo BM, Olvera MA, Heffron E, Mullins RF, Sheffield VC, Stone EM, Takahashi JS. Pinto LH, et al. Among authors: sheffield vc. Vis Neurosci. 2005 Sep-Oct;22(5):619-29. doi: 10.1017/S0952523805225117. Vis Neurosci. 2005. PMID: 16332273

2

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

Pinto LH, Vitaterna MH, Siepka SM, Shimomura K, Lumayag S, Baker M, Fenner D, Mullins RF, Sheffield VC, Stone EM, Heffron E, Takahashi JS. Pinto LH, et al. Among authors: sheffield vc. Vision Res. 2004 Dec;44(28):3335-45. doi: 10.1016/j.visres.2004.07.025. Vision Res. 2004. PMID: 15536001 Free PMC article.

3

Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.

Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC. Swiderski RE, et al. Among authors: sheffield vc. Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3329-40. doi: 10.1167/iovs.06-1477. Invest Ophthalmol Vis Sci. 2007. PMID: 17591906

4

Molecular genetics of age-related macular degeneration.

Stone EM, Sheffield VC, Hageman GS. Stone EM, et al. Among authors: sheffield vc. Hum Mol Genet. 2001 Oct 1;10(20):2285-92. doi: 10.1093/hmg/10.20.2285. Hum Mol Genet. 2001. PMID: 11673412 Review.

5

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, Stone EM, Sheffield V, Drack AV. Seo S, et al. Invest Ophthalmol Vis Sci. 2013 Sep 11;54(9):6118-32. doi: 10.1167/iovs.13-11673. Invest Ophthalmol Vis Sci. 2013. PMID: 23900607 Free PMC article.

6

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, Sheffield VC. Drack AV, et al. Among authors: sheffield vc. Invest Ophthalmol Vis Sci. 2012 Jan 5;53(1):100-6. doi: 10.1167/iovs.11-8544. Invest Ophthalmol Vis Sci. 2012. PMID: 22110077 Free PMC article.

7

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC. Fishman GA, et al. Among authors: sheffield vc. Arch Ophthalmol. 1992 Nov;110(11):1582-8. doi: 10.1001/archopht.1992.01080230082026. Arch Ophthalmol. 1992. PMID: 1444916

8

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Sheffield VC. Fishman GA, et al. Among authors: sheffield vc. Arch Ophthalmol. 1992 May;110(5):646-53. doi: 10.1001/archopht.1992.01080170068026. Arch Ophthalmol. 1992. PMID: 1580841

9

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.

Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC. Stone EM, et al. Among authors: sheffield vc. Ophthalmology. 1991 Dec;98(12):1806-13. doi: 10.1016/s0161-6420(91)32046-3. Ophthalmology. 1991. PMID: 1775314

10

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM. Jacobson SG, et al. Among authors: sheffield vc. Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1662-74. Invest Ophthalmol Vis Sci. 1996. PMID: 8675410

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