Sheffield VC - Search Results

1

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

2

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. Milam AH, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):473-8. doi: 10.1073/pnas.022533099. Epub 2002 Jan 2. Proc Natl Acad Sci U S A. 2002. PMID: 11773633 Free PMC article.

3

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

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

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Braun TA, et al. Among authors: sheffield vc. Hum Mol Genet. 2013 Dec 20;22(25):5136-45. doi: 10.1093/hmg/ddt367. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918662 Free PMC article.

6

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.

7

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

8

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

9

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Stone EM, et al. Among authors: sheffield vc. Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. Arch Ophthalmol. 2011. PMID: 21220633 Free PMC article.

10

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

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