Shroyer NF - Search Results

1

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Allikmets R, et al. Among authors: shroyer nf. Science. 1997 Sep 19;277(5333):1805-7. doi: 10.1126/science.277.5333.1805. Science. 1997. PMID: 9295268

2

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. Allikmets R, et al. Among authors: shroyer nf. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934

3

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Lewis RA, et al. Among authors: shroyer nf. Am J Hum Genet. 1999 Feb;64(2):422-34. doi: 10.1086/302251. Am J Hum Genet. 1999. PMID: 9973280 Free PMC article.

4

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR. Shroyer NF, et al. Vision Res. 1999 Jul;39(15):2537-44. doi: 10.1016/s0042-6989(99)00037-1. Vision Res. 1999. PMID: 10396622 Free article. Review.

5

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

Shroyer NF, Lewis RA, Lupski JR. Shroyer NF, et al. Hum Genet. 2000 Feb;106(2):244-8. doi: 10.1007/s004390051034. Hum Genet. 2000. PMID: 10746567

6

Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?

Shroyer NF, Lewis RA, Lupski JR. Shroyer NF, et al. Am J Ophthalmol. 2001 Jun;131(6):761-6. doi: 10.1016/s0002-9394(01)00838-8. Am J Ophthalmol. 2001. PMID: 11384574

7

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Shroyer NF, et al. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61. Invest Ophthalmol Vis Sci. 2001. PMID: 11687513

8

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Shroyer NF, et al. Hum Mol Genet. 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. Hum Mol Genet. 2001. PMID: 11726554

9

An ABCA4 genomic deletion in patients with Stargardt disease.

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Among authors: shroyer nf. Hum Mutat. 2003 Jun;21(6):636-44. doi: 10.1002/humu.10219. Hum Mutat. 2003. PMID: 12754711

10

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Among authors: shroyer nf. Hum Genet. 2001 Apr;108(4):346-55. doi: 10.1007/s004390100493. Hum Genet. 2001. PMID: 11379881

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