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Items: 1 to 20 of 104

1.

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.

Sengillo JD, Fridman G, Cho GY, Buchovecky C, Tsang SH.

Ophthalmic Surg Lasers Imaging Retina. 2018 Jul 1;49(7):548-552. doi: 10.3928/23258160-20180628-14.

PMID:
30021045
2.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.

Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.

Mol Vis. 2010 Aug 15;16:1620-8.

3.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.

4.

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.

Jin ZB, Gu F, Ma X, Nao-i N.

Arch Ophthalmol. 2007 Oct;125(10):1407-12.

PMID:
17923551
5.
6.

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.

Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.

Mol Vis. 2007 Aug 30;13:1548-54.

PMID:
17893654
7.

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.

Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E.

Eur J Ophthalmol. 2017 Mar 10;27(2):240-248. doi: 10.5301/ejo.5000879. Epub 2016 Oct 21.

PMID:
27768226
8.

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.

Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E.

Sci Rep. 2016 Dec 20;6:39179. doi: 10.1038/srep39179.

9.

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.

10.

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.

Ophthalmology. 1998 Dec;105(12):2286-96.

PMID:
9855162
11.

Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.

Tzu JH, Arguello T, Berrocal AM, Berrocal M, Weisman AD, Liu M, Hess D, Caputo M, Goldberg JL, Feuer WJ, Stone EM, Lam BL.

Ophthalmic Genet. 2015;36(4):321-6. doi: 10.3109/13816810.2014.886267. Epub 2014 Feb 20.

PMID:
24555744
12.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304.

PMID:
17325176
13.

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.

Ophthalmic Genet. 2003 Dec;24(4):215-23.

PMID:
14566651
14.

Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.

Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.

Neurosci Lett. 2011 Aug 1;500(1):16-9. doi: 10.1016/j.neulet.2011.05.234. Epub 2011 Jun 12.

PMID:
21683121
15.

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.

Fischer MD, McClements ME, Martinez-Fernandez de la Camara C, Bellingrath JS, Dauletbekov D, Ramsden SC, Hickey DG, Barnard AR, MacLaren RE.

Mol Ther. 2017 Aug 2;25(8):1854-1865. doi: 10.1016/j.ymthe.2017.05.005. Epub 2017 May 24.

16.
17.

[Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].

Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P.

Cesk Slov Oftalmol. 2013 Mar;69(1):8-15. Czech.

PMID:
23822596
18.

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.

Arch Ophthalmol. 2008 Mar;126(3):379-84. doi: 10.1001/archophthalmol.2007.72.

PMID:
18332319
19.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.

PMID:
28863407
20.

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.

Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299.

PMID:
20021257

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