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Items: 1 to 20 of 365

1.

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.

Am J Hum Genet. 1997 Sep;61(3):571-80.

2.

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Genet. 1999 Jul-Aug;105(1-2):57-62.

PMID:
10480356
3.

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A.

Am J Hum Genet. 1997 Dec;61(6):1287-92.

4.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.

5.

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
6.

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.

Eur J Hum Genet. 1999 Sep;7(6):687-94.

7.

Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

Guevara-Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, Vicencio C, Pena M, Fishman G, Mintz-Hittner H, Birch D, Hoffman D, Mears A, Fujita R, Swaroop A.

Hum Mutat. 2001 Feb;17(2):151.

PMID:
11180598
8.

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.

Hum Mutat. 1999;13(2):141-5.

PMID:
10094550
9.

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).

Zeiss CJ, Ray K, Acland GM, Aguirre GD.

Hum Mol Genet. 2000 Mar 1;9(4):531-7.

10.

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.

Hum Mol Genet. 1999 Aug;8(8):1571-8.

11.

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.

Ophthalmic Genet. 2003 Dec;24(4):215-23.

PMID:
14566651
12.

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.

Am J Med Genet. 2001 Dec 1;104(3):232-8.

PMID:
11754050
13.

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF.

Hum Mutat. 2002 May;19(5):486-500. Review.

PMID:
11968081
14.

Novel mutations of the RPGR gene in RP3 families.

Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.

Hum Mutat. 2000 Apr;15(4):386.

PMID:
10737996
15.

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.

Nat Genet. 2000 Aug;25(4):462-6.

PMID:
10932196
16.

Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.

Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.

Ophthalmic Genet. 2001 Sep;22(3):187-94.

PMID:
11559860
17.

Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.

Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.

Chin Med J (Engl). 2002 Jun;115(6):833-6.

PMID:
12123547
18.

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.

Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A.

Hum Mutat. 1998;12(3):212-3.

PMID:
10651485
19.

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.

Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A.

Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2470-4.

PMID:
9804156
20.

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.

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