Sheffield VC - Search Results

1

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

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

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

4

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Nichols BE, et al. Among authors: sheffield vc. Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202. Nat Genet. 1993. PMID: 8485574

5

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

6

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Haider NB, et al. Among authors: sheffield vc. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777. Nat Genet. 2000. PMID: 10655056

7

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

8

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Jacobson SG, et al. Among authors: sheffield vc. Hum Mol Genet. 2003 May 1;12(9):1073-8. doi: 10.1093/hmg/ddg117. Hum Mol Genet. 2003. PMID: 12700176

9

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Jacobson SG, et al. Among authors: sheffield vc. Hum Mol Genet. 2004 Sep 1;13(17):1893-902. doi: 10.1093/hmg/ddh198. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229190

10

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.

Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Stone EM, et al. Among authors: sheffield vc. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

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