BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 35094030)

  • 1. Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
    Saeed OB; Traboulsi EI; Coussa RG
    Eye (Lond); 2023 Feb; 37(2):350-355. PubMed ID: 35094030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
    Jayasundera T; Branham KE; Othman M; Rhoades WR; Karoukis AJ; Khanna H; Swaroop A; Heckenlively JR
    Arch Ophthalmol; 2010 Jul; 128(7):915-23. PubMed ID: 20625056
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Visual Function in Carriers of X-Linked Retinitis Pigmentosa.
    Comander J; Weigel-DiFranco C; Sandberg MA; Berson EL
    Ophthalmology; 2015 Sep; 122(9):1899-906. PubMed ID: 26143542
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 11. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
    Ponjavic V; Andréasson S; Abrahamson M; Ehinger B; Gieser L; Fujita R; Swaroop A
    Ophthalmic Genet; 1998 Dec; 19(4):187-96. PubMed ID: 9895243
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
    Sharon D; Bruns GA; McGee TL; Sandberg MA; Berson EL; Dryja TP
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2712-21. PubMed ID: 10937588
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
    Chassine T; Bocquet B; Daien V; Avila-Fernandez A; Ayuso C; Collin RW; Corton M; Hejtmancik JF; van den Born LI; Klevering BJ; Riazuddin SA; Sendon N; Lacroux A; Meunier I; Hamel CP
    Br J Ophthalmol; 2015 Oct; 99(10):1360-5. PubMed ID: 25883087
    [TBL] [Abstract][Full Text] [Related]  

  • 16. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
    Georgiou M; Robson AG; Uwaydat SH; Ji MH; Shakarchi AF; Pontikos N; Mahroo OA; Cheetham ME; Webster AR; Hardcastle AJ; Michaelides M
    Am J Ophthalmol; 2024 May; 261():112-120. PubMed ID: 37977507
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
    Wada Y; Nakazawa M; Abe T; Tamai M
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):290-3. PubMed ID: 10634633
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.