Sheffield VC - Search Results

1

Procollagen II gene mutation in Stickler syndrome.

Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Brown DM, et al. Among authors: sheffield vc. Arch Ophthalmol. 1992 Nov;110(11):1589-93. doi: 10.1001/archopht.1992.01080230089027. Arch Ophthalmol. 1992. PMID: 1444917

2

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: sheffield vc. Arch Ophthalmol. 2008 Sep;126(9):1301-7. doi: 10.1001/archopht.126.9.1301. Arch Ophthalmol. 2008. PMID: 18779497

3

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Stone EM, et al. Among authors: sheffield vc. Hum Mol Genet. 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. Hum Mol Genet. 1992. PMID: 1284594

4

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

5

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE. Fishman GA, et al. Among authors: sheffield vc. Arch Ophthalmol. 1992 Jan;110(1):54-62. doi: 10.1001/archopht.1992.01080130056026. Arch Ophthalmol. 1992. PMID: 1731723

6

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

7

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Fishman GA, et al. Among authors: sheffield vc. Arch Ophthalmol. 1991 Oct;109(10):1387-93. doi: 10.1001/archopht.1991.01080100067044. Arch Ophthalmol. 1991. PMID: 1929926

8

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).

Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Brown DM, et al. Among authors: sheffield vc. Hum Mol Genet. 1995 Jan;4(1):141-2. doi: 10.1093/hmg/4.1.141. Hum Mol Genet. 1995. PMID: 7711727 No abstract available.

9

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

Lam BL, Vandenburgh K, Sheffield VC, Stone EM. Lam BL, et al. Among authors: sheffield vc. Am J Ophthalmol. 1995 Jan;119(1):65-71. doi: 10.1016/s0002-9394(14)73815-2. Am J Ophthalmol. 1995. PMID: 7825692

10

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM. Gorin MB, et al. Among authors: sheffield vc. Ophthalmology. 1995 Feb;102(2):246-55. doi: 10.1016/s0161-6420(95)31029-9. Ophthalmology. 1995. PMID: 7862413 Free article.

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