137 related articles for article (PubMed ID: 32434206)
1. RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe "Male Pattern".
Salvetti AP; Nanda A; MacLaren RE
Ophthalmologica; 2021; 244(1):60-67. PubMed ID: 32434206
[TBL] [Abstract][Full Text] [Related]
2. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Fishman GA; Grover S; Jacobson SG; Alexander KR; Derlacki DJ; Wu W; Buraczynska M; Swaroop A
Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
[TBL] [Abstract][Full Text] [Related]
3. 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
Ophthalmic Genet; 2015; 36(3):251-6. PubMed ID: 24428633
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 15173948
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
Sanchez Tocino H; Diez Montero C; Villanueva Gómez A; Lobo Valentin R; Montero-Moreno JA
Ophthalmic Genet; 2019 Apr; 40(2):170-176. PubMed ID: 31033374
[TBL] [Abstract][Full Text] [Related]
6. 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; 16():1620-8. PubMed ID: 20806050
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 9331262
[TBL] [Abstract][Full Text] [Related]
8. 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; 12():1167-74. PubMed ID: 17093403
[TBL] [Abstract][Full Text] [Related]
9. Clinical characteristics of high myopia in female carriers of pathogenic
Tran M; Kolesnikova M; Kim AH; Kowal T; Ning K; Mahajan VB; Tsang SH; Sun Y
Ophthalmic Genet; 2023 Jun; 44(3):295-303. PubMed ID: 36017691
[TBL] [Abstract][Full Text] [Related]
10. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.
Marques JP; Pinheiro R; Carvalho AL; Raimundo M; Soares M; Melo P; Murta J; Saraiva J; Silva R
Graefes Arch Clin Exp Ophthalmol; 2023 Mar; 261(3):867-878. PubMed ID: 36050475
[TBL] [Abstract][Full Text] [Related]
11. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
Tzu JH; Arguello T; Berrocal AM; Berrocal M; Weisman AD; Liu M; Hess D; Caputo M; Goldberg JL; Feuer WJ; Stone EM; Lam BL
Ophthalmic Genet; 2015; 36(4):321-6. PubMed ID: 24555744
[TBL] [Abstract][Full Text] [Related]
12. 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; 54(2):1411-6. PubMed ID: 23372056
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.
Acton JH; Greenberg JP; Greenstein VC; Marsiglia M; Tabacaru M; Theodore Smith R; Tsang SH
Exp Eye Res; 2013 Aug; 113():41-8. PubMed ID: 23669302
[TBL] [Abstract][Full Text] [Related]
14. A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
Schatz P; Bregnhøj J; Arvidsson H; Sharon D; Mizrahi-Meissonnier L; Sander B; Grønskov K; Larsen M
Mol Vis; 2012; 18():1147-55. PubMed ID: 22605925
[TBL] [Abstract][Full Text] [Related]
15. 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; 143A(11):1150-8. PubMed ID: 17480003
[TBL] [Abstract][Full Text] [Related]
16. 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
Ophthalmol Retina; 2020 May; 4(5):510-520. PubMed ID: 31953110
[TBL] [Abstract][Full Text] [Related]
17. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.
Fishman GA; Grover S; Buraczynska M; Wu W; Swaroop A
Arch Ophthalmol; 1998 Feb; 116(2):213-8. PubMed ID: 9488274
[TBL] [Abstract][Full Text] [Related]
18. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
Kousal B; Skalicka P; Valesova L; Fletcher T; Hart-Holden N; O'Grady A; Chakarova CF; Michaelides M; Hardcastle AJ; Liskova P
Mol Vis; 2014; 20():1307-17. PubMed ID: 25352739
[TBL] [Abstract][Full Text] [Related]
19. Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.
Lee HW; Lee EK
BMC Ophthalmol; 2023 May; 23(1):221. PubMed ID: 37198560
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]