BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

328 related articles for article (PubMed ID: 22084217)

  • 1. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
    Wen Y; Locke KG; Klein M; Bowne SJ; Sullivan LS; Ray JW; Daiger SP; Birch DG; Hughbanks-Wheaton DK
    Arch Ophthalmol; 2011 Nov; 129(11):1475-82. PubMed ID: 22084217
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
    Hugosson T; Friedman JS; Ponjavic V; Abrahamson M; Swaroop A; Andréasson S
    Arch Ophthalmol; 2010 Jun; 128(6):772-8. PubMed ID: 20547956
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
    Oh JK; Lima de Carvalho JR; Sun YJ; Ragi S; Yang J; Levi SR; Ryu J; Bassuk AG; Mahajan VB; Tsang SH
    Orphanet J Rare Dis; 2019 Dec; 14(1):295. PubMed ID: 31856884
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U; Ponjavic V; Abrahamson M; Nilsson-Ehle P; Andrëasson S; Stenström I; Ehinger B
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
    Kozma P; Hughbanks-Wheaton DK; Locke KG; Fish GE; Gire AI; Spellicy CJ; Sullivan LS; Bowne SJ; Daiger SP; Birch DG
    Am J Ophthalmol; 2005 Nov; 140(5):858-867. PubMed ID: 16214101
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Concentric retinitis pigmentosa: clinicopathologic correlations.
    Milam AH; De Castro EB; Smith JE; Tang WX; John SK; Gorin MB; Stone EM; Aguirre GD; Jacobson SG
    Exp Eye Res; 2001 Oct; 73(4):493-508. PubMed ID: 11825021
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Jpn J Ophthalmol; 2018 Mar; 62(2):186-193. PubMed ID: 29305715
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An unusual retinal phenotype associated with a novel mutation in RHO.
    Audo I; Friedrich A; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Poch O; Bhattacharya S; Sahel JA; Zeitz C
    Arch Ophthalmol; 2010 Aug; 128(8):1036-45. PubMed ID: 20697005
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone-rod dystrophy.
    Yokochi M; Li D; Horiguchi M; Kishi S
    Doc Ophthalmol; 2012 Dec; 125(3):211-8. PubMed ID: 22865508
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
    Friedman JS; Ray JW; Waseem N; Johnson K; Brooks MJ; Hugosson T; Breuer D; Branham KE; Krauth DS; Bowne SJ; Sullivan LS; Ponjavic V; Gränse L; Khanna R; Trager EH; Gieser LM; Hughbanks-Wheaton D; Cojocaru RI; Ghiasvand NM; Chakarova CF; Abrahamson M; Göring HH; Webster AR; Birch DG; Abecasis GR; Fann Y; Bhattacharya SS; Daiger SP; Heckenlively JR; Andréasson S; Swaroop A
    Am J Hum Genet; 2009 Jun; 84(6):792-800. PubMed ID: 19520207
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA; Rosner B; Weigel-DiFranco C; Dryja TP; Berson EL
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1298-304. PubMed ID: 17325176
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
    Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography.
    Nagy D; Schönfisch B; Zrenner E; Jägle H
    Invest Ophthalmol Vis Sci; 2008 Oct; 49(10):4664-71. PubMed ID: 18566474
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
    Dessalces E; Bocquet B; Bourien J; Zanlonghi X; Verdet R; Meunier I; Hamel CP
    JAMA Ophthalmol; 2013 Oct; 131(10):1314-23. PubMed ID: 23929416
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y; Sandberg MA; McGee TL; Stillberger MA; Berson EL; Dryja TP
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.