These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

406 related articles for article (PubMed ID: 18641288)

  • 21. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
    Gerth-Kahlert C; Tiwari A; Hanson JVM; Batmanabane V; Traboulsi E; Pennesi ME; Al-Qahtani AA; Lam BL; Heckenlively J; Zweifel SA; Vincent A; Fierz F; Barthelmes D; Branham K; Khan N; Bahr A; Baehr L; Magyar I; Koller S; Azzarello-Burri S; Niedrist D; Heon E; Berger W
    Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3840-3850. PubMed ID: 28763557
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV
    Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
    [TBL] [Abstract][Full Text] [Related]  

  • 23. CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
    Testa F; Melillo P; Bonnet C; Marcelli V; de Benedictis A; Colucci R; Gallo B; Kurtenbach A; Rossi S; Marciano E; Auricchio A; Petit C; Zrenner E; Simonelli F
    Retina; 2017 Aug; 37(8):1581-1590. PubMed ID: 27828912
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.
    Trichonas G; Traboulsi EI; Ehlers JP
    Ophthalmic Genet; 2017; 38(4):320-324. PubMed ID: 27880076
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
    Di Iorio V; Karali M; Melillo P; Testa F; Brunetti-Pierri R; Musacchia F; Condroyer C; Neidhardt J; Audo I; Zeitz C; Banfi S; Simonelli F
    Invest Ophthalmol Vis Sci; 2020 Dec; 61(14):36. PubMed ID: 33372982
    [TBL] [Abstract][Full Text] [Related]  

  • 26. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
    Mathijssen IB; Florijn RJ; van den Born LI; Zekveld-Vroon RC; Ten Brink JB; Plomp AS; Baas F; Meijers-Heijboer H; Bergen AA; van Schooneveld MJ
    Retina; 2017 Jan; 37(1):161-172. PubMed ID: 27380427
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
    Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W; Dai H; Lu T; Zhang X; Dong B; Li Y
    Mol Vis; 2011; 17():1537-52. PubMed ID: 21686329
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene.
    Andréasson S; Ponjavic V; Abrahamson M; Ehinger B; Wu W; Fujita R; Buraczynska M; Swaroop A
    Am J Ophthalmol; 1997 Jul; 124(1):95-102. PubMed ID: 9222238
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
    Kaiserman N; Obolensky A; Banin E; Sharon D
    Arch Ophthalmol; 2007 Feb; 125(2):219-24. PubMed ID: 17296898
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotype in two families with RP3 associated with RPGR mutations.
    Lorenz B; Andrassi M; Kretschmann U
    Ophthalmic Genet; 2003 Jun; 24(2):89-101. PubMed ID: 12789573
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
    Duncan JL; Liang W; Maguire MG; Audo I; Ayala AR; Birch DG; Carroll J; Cheetham JK; Esposti SD; Durham TA; Erker L; Farsiu S; Ferris FL; Heon E; Hufnagel RB; Iannaccone A; Jaffe GJ; Kay CN; Michaelides M; Pennesi ME; Sahel JA;
    Am J Ophthalmol; 2020 Nov; 219():87-100. PubMed ID: 32446738
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
    Colombo L; Maltese PE; Romano D; Fogagnolo P; Castori M; Marceddu G; Cristofoli F; Percio M; Piteková B; Modarelli AM; Bertelli M; Rossetti L
    Ophthalmic Res; 2022; 65(2):180-195. PubMed ID: 34781295
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
    Pérez-Carro R; Blanco-Kelly F; Galbis-Martínez L; García-García G; Aller E; García-Sandoval B; Mínguez P; Corton M; Mahíllo-Fernández I; Martín-Mérida I; Avila-Fernández A; Millán JM; Ayuso C
    PLoS One; 2018; 13(6):e0199048. PubMed ID: 29912909
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.
    Grover S; Fishman GA; Anderson RJ; Lindeman M
    Ophthalmology; 2000 Feb; 107(2):386-96. PubMed ID: 10690843
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.
    Birch DG; Locke KG; Felius J; Klein M; Wheaton DK; Hoffman DR; Hood DC
    Ophthalmology; 2015 Apr; 122(4):833-9. PubMed ID: 25556114
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X; Li X; Tian W; Yang Y; Sun K; Li S; Zhu X
    Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
    Sandberg MA; Weigel-DiFranco C; Dryja TP; Berson EL
    Invest Ophthalmol Vis Sci; 1995 Aug; 36(9):1934-42. PubMed ID: 7635666
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 21.