183 related articles for article (PubMed ID: 36882936)
1. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Kuruvilla SE; Song E; Raoof N; van Bysterveldt K; Oliver VF; Hong SC; Al-Taie R; Wilson G; Vincent AL
Clin Exp Ophthalmol; 2023; 51(4):300-312. PubMed ID: 36882936
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 14566651
[TBL] [Abstract][Full Text] [Related]
3. 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; 14():1081-93. PubMed ID: 18552978
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
Parmeggiani F; Barbaro V; Migliorati A; Raffa P; Nespeca P; De Nadai K; Del Vecchio C; Palù G; Parolin C; Di Iorio E
Eur J Ophthalmol; 2017 Mar; 27(2):240-248. PubMed ID: 27768226
[TBL] [Abstract][Full Text] [Related]
7. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K; Othman M; Brumm M; Karoukis AJ; Atmaca-Sonmez P; Yashar BM; Schwartz SB; Stover NB; Trzupek K; Wheaton D; Jennings B; Ciccarelli ML; Jayasundera KT; Lewis RA; Birch D; Bennett J; Sieving PA; Andreasson S; Duncan JL; Fishman GA; Iannaccone A; Weleber RG; Jacobson SG; Heckenlively JR; Swaroop A
Invest Ophthalmol Vis Sci; 2012 Dec; 53(13):8232-7. PubMed ID: 23150612
[TBL] [Abstract][Full Text] [Related]
8. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
Ji Y; Wang J; Xiao X; Li S; Guo X; Zhang Q
Curr Eye Res; 2010 Jan; 35(1):73-9. PubMed ID: 20021257
[TBL] [Abstract][Full Text] [Related]
9. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V; Jambou M; Delphin N; Zinovieva E; Stum M; Gigarel N; Dollfus H; Hamel C; Toutain A; Dufier JL; Roche O; Munnich A; Bonnefont JP; Kaplan J; Rozet JM
Hum Mutat; 2007 Jan; 28(1):81-91. PubMed ID: 16969763
[TBL] [Abstract][Full Text] [Related]
10. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
Haddad MF; Khabour OF; Abuzaideh KA; Shihadeh W
Genet Mol Res; 2016 Jun; 15(2):. PubMed ID: 27323122
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 12657579
[TBL] [Abstract][Full Text] [Related]
12. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
Prokisch H; Hartig M; Hellinger R; Meitinger T; Rosenberg T
Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4012-8. PubMed ID: 17724181
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 11992260
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 14564670
[TBL] [Abstract][Full Text] [Related]
15. Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J; Wu X; Shen D; Dong L; Jiao X; Hejtmancik JF; Li N
Sci Rep; 2017 Mar; 7():44465. PubMed ID: 28294154
[TBL] [Abstract][Full Text] [Related]
16. Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
Zou X; Fang S; Wu S; Li H; Sun Z; Zhu T; Wei X; Sui R
Exp Eye Res; 2020 Sep; 198():108147. PubMed ID: 32702353
[TBL] [Abstract][Full Text] [Related]
17. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
Pomares E; Riera M; Castro-Navarro J; Andrés-Gutiérrez A; Gonzàlez-Duarte R; Marfany G
Invest Ophthalmol Vis Sci; 2009 Nov; 50(11):5107-14. PubMed ID: 19516003
[TBL] [Abstract][Full Text] [Related]
18. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
Cehajic-Kapetanovic J; McClements ME; Whitfield J; Shanks M; Clouston P; MacLaren RE
JAMA Ophthalmol; 2020 Nov; 138(11):1151-1158. PubMed ID: 32970112
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
García-Hoyos M; Garcia-Sandoval B; Cantalapiedra D; Riveiro R; Lorda-Sánchez I; Trujillo-Tiebas MJ; Rodriguez de Alba M; Millan JM; Baiget M; Ramos C; Ayuso C
Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3777-82. PubMed ID: 16936086
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]