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Items: 1 to 20 of 83

1.

Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.

Vincent AL, Carroll J, Fishman GA, Sauer A, Sharp D, Summerfelt P, Williams V, Dubis AM, Kohl S, Wong F.

Transl Vis Sci Technol. 2013 Feb;2(2):4. Epub 2013 Mar 13.

2.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D.

Ophthalmology. 2015 May;122(5):997-1007. doi: 10.1016/j.ophtha.2014.11.025. Epub 2015 Jan 21.

PMID:
25616768
3.

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E.

Invest Ophthalmol Vis Sci. 2013 Jan 30;54(1):898-908. doi: 10.1167/iovs.12-10971.

4.

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A.

Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3283-91.

PMID:
17591900
5.

Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.

Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 1995 Oct;36(11):2186-92.

PMID:
7558711
6.

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.

PMID:
12359607
7.

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.

Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90. doi: 10.1167/iovs.12-11439.

PMID:
23788369
8.

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.

9.

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1580-90. doi: 10.1167/iovs.07-1110.

10.

High-resolution retinal imaging of cone-rod dystrophy.

Wolfing JI, Chung M, Carroll J, Roorda A, Williams DR.

Ophthalmology. 2006 Jun;113(6):1019.e1. Epub 2006 May 2.

PMID:
16650474
11.

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Zhang X, Huang JF.

Chin Med Sci J. 2005 Mar;20(1):30-4.

PMID:
15844309
12.
13.

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.

PMID:
23900199
14.

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.

Acta Ophthalmol Scand. 2007 May;85(3):287-97.

15.

Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.

Kim C, Chung H, Yu HG.

Ophthalmic Genet. 2012 Jun;33(2):96-9. doi: 10.3109/13816810.2011.642453. Epub 2012 Jan 4.

PMID:
22217031
16.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FP, Collin RW.

Ophthalmology. 2013 Dec;120(12):2697-705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29.

PMID:
24084495
17.
18.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
19.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
20.

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa.

Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM.

Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6328-33. Epub 2002 Apr 23.

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