Similar articles for PMID: 14627685

Year	Number of Results
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1

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.

2

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.

3

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, Othman MI, Karoukis AJ, Birch DG, Daiger SP. Fahim AT, et al. Ophthalmol Retina. 2020 May;4(5):510-520. doi: 10.1016/j.oret.2019.11.010. Epub 2019 Nov 18. Ophthalmol Retina. 2020. PMID: 31953110 Free PMC article.

4

Focus on Molecules: RPGR.

Wright AF, Shu X. Wright AF, et al. Exp Eye Res. 2007 Jul;85(1):1-2. doi: 10.1016/j.exer.2006.03.006. Epub 2006 Jun 12. Exp Eye Res. 2007. PMID: 16769054 Review. No abstract available.

5

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

Iannaccone A, Othman MI, Cantrell AD, Jennings BJ, Branham K, Swaroop A. Iannaccone A, et al. Adv Exp Med Biol. 2008;613:221-7. doi: 10.1007/978-0-387-74904-4_25. Adv Exp Med Biol. 2008. PMID: 18188948 No abstract available.

6

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

Zhou Q, Yao F, Wang F, Li H, Chen R, Sui R. Zhou Q, et al. Am J Med Genet A. 2018 Jan;176(1):214-218. doi: 10.1002/ajmg.a.38501. Epub 2017 Nov 14. Am J Med Genet A. 2018. PMID: 29135076

7

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. Moore A, et al. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055928 Free PMC article.

8

Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.

Jin ZB, Gu F, Matsuda H, Yukawa N, Ma X, Nao-i N. Jin ZB, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2544-8. doi: 10.1002/ajmg.a.31984. Am J Med Genet A. 2007. PMID: 17935240

9

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP. Fahim AT, et al. Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. Adv Exp Med Biol. 2012. PMID: 22183348 Free PMC article. No abstract available.

10

Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.

Shifera AS, Kay CN. Shifera AS, et al. Ophthalmic Genet. 2015;36(3):251-6. doi: 10.3109/13816810.2013.879597. Ophthalmic Genet. 2015. PMID: 24428633

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