Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 221

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.

J Med Genet. 2003 Nov;40(11):e118. No abstract available.

2.

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S.

Am J Hum Genet. 1999 Apr;64(4):1210-5. No abstract available.

3.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

Rozet JM, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S, Dufier JL, Munnich A, Kaplan J.

J Med Genet. 2002 Apr;39(4):284-5. No abstract available.

4.

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.

J Med Genet. 2003 Aug;40(8):609-15. No abstract available.

5.

A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa.

Li N, Dai S, Zhang L, Mei H, Wang L.

Mol Genet Metab. 2011 Apr;102(4):488-93. doi: 10.1016/j.ymgme.2010.12.006.

PMID:
21227725
6.

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D.

Am J Med Genet A. 2007 Jun 1;143A(11):1150-8.

PMID:
17480003
7.

Focus on Molecules: RPGR.

Wright AF, Shu X.

Exp Eye Res. 2007 Jul;85(1):1-2. Review. No abstract available.

PMID:
16769054
8.

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

Evans RJ, Hardcastle AJ, Cheetham ME.

Exp Eye Res. 2006 Apr;82(4):543-4. Review. No abstract available.

PMID:
16310188
9.

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
10.

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.

11.

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.

Adv Exp Med Biol. 2008;613:221-7. No abstract available.

PMID:
18188948
12.

[X-linked retinitis pigmentosa].

Ignaczak R, Sobolewski P.

Klin Oczna. 1992;94(2-3):78-9. Polish.

PMID:
1640690
13.

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.

14.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

15.

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.

16.

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
17.

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 1999 Mar;64(3):897-900. No abstract available.

18.

Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.

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

Am J Med Genet A. 2007 Nov 1;143A(21):2544-8.

PMID:
17935240
19.

X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.

Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM.

Arch Ophthalmol. 1997 Nov;115(11):1429-35.

PMID:
9366675
20.

[Gene diagnosis of X linked retinitis pigmentosa by linkage analysis].

Liu M, Wei Y, Liu L.

Zhonghua Yi Xue Za Zhi. 1999 Jan;79(1):54-6. Chinese.

PMID:
11601008
Items per page

Supplemental Content

Support Center