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Results: 1 to 20 of 249

1.

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.

PMID:
23372056
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

PMID:
18552978
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.

Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.

Mol Vis. 2006 Oct 6;12:1167-74.

PMID:
17093403
[PubMed - indexed for MEDLINE]
Free Article
6.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
14564670
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82.

PMID:
16936086
[PubMed - indexed for MEDLINE]
Free Article
9.

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.

PMID:
23950152
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.

PMID:
16799052
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.

PMID:
16969763
[PubMed - indexed for MEDLINE]
12.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.

PMID:
11992260
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A.

Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025.

PMID:
23150612
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.

Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4012-8.

PMID:
17724181
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.

PMID:
10937588
[PubMed - indexed for MEDLINE]
Free Article
18.

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

Veltel S, Wittinghofer A.

Expert Opin Ther Targets. 2009 Oct;13(10):1239-51. doi: 10.1517/14728220903225016. Review.

PMID:
19702441
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
20806050
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10.

PMID:
19516003
[PubMed - indexed for MEDLINE]
Free Article
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