Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 498

1.

Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.

Invest Ophthalmol Vis Sci. 2011 Mar 1;52(3):1557-66. doi: 10.1167/iovs.10-6549.

2.

Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease.

Chen Y, Ratnam K, Sundquist SM, Lujan B, Ayyagari R, Gudiseva VH, Roorda A, Duncan JL.

Invest Ophthalmol Vis Sci. 2011 May 17;52(6):3281-92. doi: 10.1167/iovs.10-6538.

3.

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.

Ophthalmology. 2005 Sep;112(9):1592-8.

PMID:
16019073
4.

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.

Sears JE, Aaberg TA Sr, Daiger SP, Moshfeghi DM.

Am J Ophthalmol. 2001 Nov;132(5):693-9.

PMID:
11704030
5.

Central areolar choroidal dystrophy.

Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB.

Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019.

PMID:
19243827
6.

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.

Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS.

Ophthalmology. 1997 Feb;104(2):299-306.

PMID:
9052636
7.

The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice.

Ding XQ, Nour M, Ritter LM, Goldberg AF, Fliesler SJ, Naash MI.

Hum Mol Genet. 2004 Sep 15;13(18):2075-87.

PMID:
15254014
8.

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.

Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M.

Retina. 1996;16(5):405-10.

PMID:
8912967
9.

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.

Arch Ophthalmol. 1996 Jan;114(1):72-8.

PMID:
8540854
10.

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.

Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke F, Jubb C, Keen TJ, Inglehearn C, Bhattacharya S, Arden GB, Jay M, et al.

Ophthalmology. 1994 Jan;101(1):12-22.

PMID:
8302543
11.

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.

Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM.

Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1662-74.

PMID:
8675410
12.

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A.

Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600.

13.

Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.

Conley S, Nour M, Fliesler SJ, Naash MI.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5397-407.

14.

Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.

Ratnam K, Västinsalo H, Roorda A, Sankila EM, Duncan JL.

JAMA Ophthalmol. 2013 Jan;131(1):67-74. doi: 10.1001/2013.jamaophthalmol.2.

15.
16.

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.

Ophthalmology. 1995 Feb;102(2):246-55.

PMID:
7862413
17.

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ.

Br J Ophthalmol. 2007 Nov;91(11):1504-11.

18.

The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.

Cheng T, Peachey NS, Li S, Goto Y, Cao Y, Naash MI.

J Neurosci. 1997 Nov 1;17(21):8118-28.

19.

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB.

Arch Ophthalmol. 2007 Aug;125(8):1100-6.

PMID:
17698758
20.

Supplemental Content

Support Center