Sheffield VC - Search Results

1

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

2

Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.

Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Jacobson SG, et al. Among authors: sheffield vc. Arch Ophthalmol. 2002 Mar;120(3):376-9. doi: 10.1001/archopht.120.3.376. Arch Ophthalmol. 2002. PMID: 11879143

3

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG. Milam AH, et al. Among authors: sheffield vc. Ophthalmology. 2003 Mar;110(3):549-58. doi: 10.1016/S0161-6420(02)01757-8. Ophthalmology. 2003. PMID: 12623820

4

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Azari AA, et al. Among authors: sheffield vc. Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5004-10. doi: 10.1167/iovs.06-0517. Invest Ophthalmol Vis Sci. 2006. PMID: 17065520

5

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

6

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.

Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Jacobson SG, et al. Among authors: sheffield vc. Nat Genet. 1995 Sep;11(1):27-32. doi: 10.1038/ng0995-27. Nat Genet. 1995. PMID: 7550309

7

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

8

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.

9

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.

Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM. Kemp CM, et al. Among authors: sheffield vc. Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3154-62. Invest Ophthalmol Vis Sci. 1994. PMID: 8045710

10

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Fishman GA, et al. Among authors: sheffield vc. Ophthalmology. 1994 Aug;101(8):1409-21. doi: 10.1016/s0161-6420(94)31156-0. Ophthalmology. 1994. PMID: 8058286

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