PubMed (OMIM) for id: 336999

Year	Number of Results
1990	1
1992	1
1995	1
1996	3
1997	3
1998	2
1999	3
2000	6
2001	2
2002	8
2003	5
2004	1
2005	2
2023	0

1

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

2

A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo.

Hong DH, Pawlyk BS, Adamian M, Sandberg MA, Li T. Hong DH, et al. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):435-41. doi: 10.1167/iovs.04-1065. Invest Ophthalmol Vis Sci. 2005. PMID: 15671266

3

Dominant, gain-of-function mutant produced by truncation of RPGR.

Hong DH, Pawlyk BS, Adamian M, Li T. Hong DH, et al. Invest Ophthalmol Vis Sci. 2004 Jan;45(1):36-41. doi: 10.1167/iovs.03-0787. Invest Ophthalmol Vis Sci. 2004. PMID: 14691151

4

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM. Iannaccone A, et al. J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118. J Med Genet. 2003. PMID: 14627685 Free PMC article. No abstract available.

5

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.

6

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, Bamiou DE, Hardcastle AJ. Zito I, et al. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609. J Med Genet. 2003. PMID: 12920075 Free PMC article. No abstract available.

7

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

Hong DH, Pawlyk B, Sokolov M, Strissel KJ, Yang J, Tulloch B, Wright AF, Arshavsky VY, Li T. Hong DH, et al. Invest Ophthalmol Vis Sci. 2003 Jun;44(6):2413-21. doi: 10.1167/iovs.02-1206. Invest Ophthalmol Vis Sci. 2003. PMID: 12766038

8

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

9

X-linked recessive atrophic macular degeneration from RPGR mutation.

Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. Ayyagari R, et al. Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815. Genomics. 2002. PMID: 12160730

10

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.

Mavlyutov TA, Zhao H, Ferreira PA. Mavlyutov TA, et al. Hum Mol Genet. 2002 Aug 1;11(16):1899-907. doi: 10.1093/hmg/11.16.1899. Hum Mol Genet. 2002. PMID: 12140192

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