BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

550 related articles for article (PubMed ID: 30913292)

  • 21. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
    Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
    Zobor D; Zobor G; Hipp S; Baumann B; Weisschuh N; Biskup S; Sliesoraityte I; Zrenner E; Kohl S
    Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3041-3052. PubMed ID: 30025130
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
    Suga A; Mizota A; Kato M; Kuniyoshi K; Yoshitake K; Sultan W; Yamazaki M; Shimomura Y; Ikeo K; Tsunoda K; Iwata T
    Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4255-63. PubMed ID: 27548899
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
    Siemiatkowska AM; Astuti GD; Arimadyo K; den Hollander AI; Faradz SM; Cremers FP; Collin RW
    Mol Vis; 2012; 18():2411-9. PubMed ID: 23077400
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
    Grøndahl J; Riise R; Heiberg A; Leren T; Christoffersen T; Bragadottir R
    Acta Ophthalmol Scand; 2007 May; 85(3):287-97. PubMed ID: 17488458
    [TBL] [Abstract][Full Text] [Related]  

  • 28. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
    Matsui R; McGuigan Iii DB; Gruzensky ML; Aleman TS; Schwartz SB; Sumaroka A; Koenekoop RK; Cideciyan AV; Jacobson SG
    Ophthalmic Genet; 2016 Sep; 37(3):333-8. PubMed ID: 26854980
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
    Klevering BJ; Maugeri A; Wagner A; Go SL; Vink C; Cremers FP; Hoyng CB
    Ophthalmology; 2004 Mar; 111(3):546-53. PubMed ID: 15019334
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA; Estrada-Cuzcano A; Banin E; Rotenstreich Y; Hipp S; Kohl S; Hoyng CB; den Hollander AI; Collin RW; Klevering BJ
    Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4683-90. PubMed ID: 23788369
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
    Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
    Abdulridha-Aboud W; Kjellström U; Andréasson S; Ponjavic V
    Mol Vis; 2016; 22():362-73. PubMed ID: 27212874
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
    De Zaeytijd J; Van Cauwenbergh C; De Bruyne M; Van Heetvelde M; De Baere E; Coppieters F; Leroy BP
    Retina; 2021 Jun; 41(6):1346-1355. PubMed ID: 34001834
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
    Dietrich K; Jacobi FK; Tippmann S; Schmid R; Zrenner E; Wissinger B; Apfelstedt-Sylla E
    Br J Ophthalmol; 2002 Mar; 86(3):328-32. PubMed ID: 11864893
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
    Kim DG; Joo K; Han J; Choi M; Kim SW; Park KH; Park SJ; Lee CS; Byeon SH; Woo SJ
    Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239417
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
    Bowne SJ; Daiger SP; Hims MM; Sohocki MM; Malone KA; McKie AB; Heckenlively JR; Birch DG; Inglehearn CF; Bhattacharya SS; Bird A; Sullivan LS
    Hum Mol Genet; 1999 Oct; 8(11):2121-8. PubMed ID: 10484783
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
    Yang P; Chiang PW; Weleber RG; Pennesi ME
    JAMA Ophthalmol; 2015 Jun; 133(6):653-61. PubMed ID: 25789692
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
    BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
    Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 28.