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Results: 1 to 20 of 111

1.

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

Kuznetsova T, Iwabe S, Boesze-Battaglia K, Pearce-Kelling S, Chang-Min Y, McDaid K, Miyadera K, Komaromy A, Aguirre GD.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5486-501. doi: 10.1167/iovs.12-10178.

PMID:
22807295
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

Miyadera K, Kato K, Aguirre-Hernández J, Tokuriki T, Morimoto K, Busse C, Barnett K, Holmes N, Ogawa H, Sasaki N, Mellersh CS, Sargan DR.

Mol Vis. 2009 Nov 11;15:2287-305.

PMID:
19936303
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

Kuznetsova T, Zangerl B, Goldstein O, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 2011 May 6;52(6):2989-98. doi: 10.1167/iovs.10-6094.

PMID:
21282582
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
[PubMed - indexed for MEDLINE]
Free Article
5.

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.

Goldstein O, Mezey JG, Boyko AR, Gao C, Wang W, Bustamante CD, Anguish LJ, Jordan JA, Pearce-Kelling SE, Aguirre GD, Acland GM.

Mol Vis. 2010 Aug 11;16:1549-69.

PMID:
20806078
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Phenotype in two families with RP3 associated with RPGR mutations.

Lorenz B, Andrassi M, Kretschmann U.

Ophthalmic Genet. 2003 Jun;24(2):89-101.

PMID:
12789573
[PubMed - indexed for MEDLINE]
7.

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Brunner S, Skosyrski S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, Berger W.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10.

PMID:
20007830
[PubMed - indexed for MEDLINE]
Free Article
8.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T.

Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1.

PMID:
23233793
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.

Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR.

PLoS One. 2012;7(5):e35865. doi: 10.1371/journal.pone.0035865. Epub 2012 May 1.

PMID:
22563472
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070.

PMID:
22807293
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3.

Guyon R, Pearce-Kelling SE, Zeiss CJ, Acland GM, Aguirre GD.

Mol Vis. 2007 Jul 11;13:1094-105.

PMID:
17653054
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa.

Beltran WA, Hammond P, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1669-81.

PMID:
16565408
[PubMed - indexed for MEDLINE]
Free Article
13.

Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.

Xi Q, Li L, Traboulsi EI, Wang QK.

Mol Vis. 2009;15:638-45. Epub 2009 Apr 3.

PMID:
19352439
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.

Miyadera K, Kato K, Boursnell M, Mellersh CS, Sargan DR.

Mamm Genome. 2012 Feb;23(1-2):212-23. doi: 10.1007/s00335-011-9384-9. Epub 2011 Dec 23.

PMID:
22193413
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.

Exp Eye Res. 2002 Oct;75(4):431-43.

PMID:
12387791
[PubMed - indexed for MEDLINE]
16.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

PMID:
18728755
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

An unusual retinal phenotype associated with a novel mutation in RHO.

Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C.

Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162.

PMID:
20697005
[PubMed - indexed for MEDLINE]
18.

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

Miyadera K, Brierley I, Aguirre-Hernández J, Mellersh CS, Sargan DR.

PLoS One. 2012;7(12):e51598. doi: 10.1371/journal.pone.0051598. Epub 2012 Dec 12.

PMID:
23251588
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR.

Br J Ophthalmol. 2013 Feb;97(2):169-73. doi: 10.1136/bjophthalmol-2012-302355. Epub 2012 Nov 10.

PMID:
23143909
[PubMed - indexed for MEDLINE]
20.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.

PMID:
20300561
[PubMed - indexed for MEDLINE]
Free PMC Article

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