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Results: 1 to 20 of 178

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.

PMID:
14627685
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
12920075
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
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.

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

PMID:
18188948
[PubMed - indexed for MEDLINE]
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.

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. Epub 2010 Dec 21.

PMID:
21227725
[PubMed - indexed for MEDLINE]
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.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.

PMID:
14564670
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
10090907
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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]
13.

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Wegscheider E, Preising MN, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2004 Jun;242(6):501-11. Epub 2004 May 29.

PMID:
15173948
[PubMed - indexed for MEDLINE]
14.

Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.

Ben-Arie-Weintrob Y, Berson EL, Dryja TP.

Ophthalmic Genet. 2005 Jun;26(2):91-100.

PMID:
16020312
[PubMed - indexed for MEDLINE]
15.

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

Krawczyński MR, Dmeńska H, Witt M.

J Appl Genet. 2004;45(1):107-10.

PMID:
14960774
[PubMed - indexed for MEDLINE]
16.

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.

Arch Ophthalmol. 2008 Mar;126(3):379-84. doi: 10.1001/archophthalmol.2007.72.

PMID:
18332319
[PubMed - indexed for MEDLINE]
17.

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A.

Am J Hum Genet. 2000 Oct;67(4):1000-3. Epub 2000 Sep 1.

PMID:
10970770
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
19.

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.

PMID:
11950860
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

Rebello G, Vorster A, Greenberg J, Coutts N, Roberts L, Ehrenreich L, Gama D, Ramesar R.

Clin Genet. 2003 Aug;64(2):137-41.

PMID:
12859409
[PubMed - indexed for MEDLINE]

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