Similar articles for PMID: 23150612

Year	Number of Results
1997	2
1998	1
1999	2
2000	1
2001	2
2002	4
2003	7
2004	2
2005	4
2006	7
2007	10
2008	3
2009	4
2010	3
2011	8
2012	7
2013	6
2014	5
2015	8
2016	9
2017	3
2018	10
2019	8
2020	9
2021	11
2022	17
2023	7
2024	0

1

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. Branham K, et al. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.

2

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. Neidhardt J, et al. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.

3

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. Jin ZB, et al. Mol Vis. 2006 Oct 6;12:1167-74. Mol Vis. 2006. PMID: 17093403 Free article.

4

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. Churchill JD, et al. Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. Invest Ophthalmol Vis Sci. 2013. PMID: 23372056 Free PMC article.

5

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. Andréasson S, et al. Ophthalmic Genet. 2003 Dec;24(4):215-23. doi: 10.1076/opge.24.4.215.17228. Ophthalmic Genet. 2003. PMID: 14566651

6

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. Ji Y, et al. Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299. Curr Eye Res. 2010. PMID: 20021257

7

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. Pelletier V, et al. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763

8

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. Sharon D, et al. Am J Hum Genet. 2003 Nov;73(5):1131-46. doi: 10.1086/379379. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564670 Free PMC article.

9

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.

Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W. Haddad MF, et al. Genet Mol Res. 2016 Jun 3;15(2). doi: 10.4238/gmr.15027842. Genet Mol Res. 2016. PMID: 27323122 Free article.

10

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. Bader I, et al. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605. Invest Ophthalmol Vis Sci. 2003. PMID: 12657579

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