BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

45 related articles for article (PubMed ID: 23143909)

  • 1. Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
    Sato T; Kuniyoshi K; Hayashi T; Nishiwaki H; Mizobuchi K; Kusaka S
    Doc Ophthalmol; 2024 Jun; 148(3):173-182. PubMed ID: 38630375
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
    Lenis TL; Dhrami-Gavazi E; Lee W; Mukkamala SK; Tabacaru MR; Yannuzzi L; Gouras P; Tsang SH
    JAMA Ophthalmol; 2013 Nov; 131(11):1482-5. PubMed ID: 24029832
    [No Abstract]   [Full Text] [Related]  

  • 3. Structural and functional characterization of an individual with the M285R
    de Guimaraes TAC; Lai F; Colombatti R; Sato G; Rizzo R; Kalitzeos A; Michaelides M
    Ophthalmic Genet; 2024 Mar; ():1-10. PubMed ID: 38454848
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Posterior microphthalmos with retinal involvement related to
    Amaral RAS; Zin OA; Moraes RT; Porto FBO; Carricondo PC; Pimentel SLG; Kestelman BP; Watanabe SES; Sallum JMF
    Ophthalmic Genet; 2024 Apr; ():1-8. PubMed ID: 38557281
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
    Siggs OM; Awadalla MS; Souzeau E; Staffieri SE; Kearns LS; Laurie K; Kuot A; Qassim A; Edwards TL; Coote MA; Mancel E; Walland MJ; Dondey J; Galanopoulous A; Casson RJ; Mills RA; MacArthur DG; Ruddle JB; Burdon KP; Craig JE
    Clin Genet; 2020 May; 97(5):764-769. PubMed ID: 32052405
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the
    Morillo Sánchez MJ; Llavero Valero P; González-Del Pozo M; Ponte Zuñiga B; Antiñolo G; Ramos Jiménez M; Rodríguez De La Rúa Franch E
    Ophthalmic Genet; 2019 Jun; 40(3):288-292. PubMed ID: 31264930
    [No Abstract]   [Full Text] [Related]  

  • 7. ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrp
    Sluch VM; Banks A; Li H; Crowley MA; Davis V; Xiang C; Yang J; Demirs JT; Vrouvlianis J; Leehy B; Hanks S; Hyman AM; Aranda J; Chang B; Bigelow CE; Rice DS
    Sci Rep; 2018 Sep; 8(1):14339. PubMed ID: 30254279
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ocular manifestations of Emanuel syndrome.
    Saffren BD; Capasso JE; Zanolli M; Levin AV
    Am J Med Genet A; 2018 Sep; 176(9):1964-1967. PubMed ID: 30178914
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nanophthalmos: A Review of the Clinical Spectrum and Genetics.
    Carricondo PC; Andrade T; Prasov L; Ayres BM; Moroi SE
    J Ophthalmol; 2018; 2018():2735465. PubMed ID: 29862063
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.
    Collery RF; Volberding PJ; Bostrom JR; Link BA; Besharse JC
    Invest Ophthalmol Vis Sci; 2016 Dec; 57(15):6805-6814. PubMed ID: 28002843
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.
    Zacharias LC; Susanna R; Sundin O; Finzi S; Susanna BN; Takahashi WY
    Retin Cases Brief Rep; 2015; 9(1):61-3. PubMed ID: 25383852
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.
    Soundararajan R; Won J; Stearns TM; Charette JR; Hicks WL; Collin GB; Naggert JK; Krebs MP; Nishina PM
    PLoS One; 2014; 9(10):e110299. PubMed ID: 25357075
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene therapy in the rd6 mouse model of retinal degeneration.
    Dinculescu A; Min SH; Deng WT; Li Q; Hauswirth WW
    Adv Exp Med Biol; 2014; 801():711-8. PubMed ID: 24664762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Subretinal infiltration of monocyte derived cells and complement misregulation in mice with AMD-like pathology.
    Fogerty J; Besharse JC
    Adv Exp Med Biol; 2014; 801():355-63. PubMed ID: 24664718
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements.
    Tu X; Palczewski K
    J Struct Biol; 2014 Apr; 186(1):86-94. PubMed ID: 24531000
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
    Wasmann RA; Wassink-Ruiter JS; Sundin OH; Morales E; Verheij JB; Pott JW
    Acta Ophthalmol; 2014 May; 92(3):276-81. PubMed ID: 23742260
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Optic disk drusen in children.
    Chang MY; Pineles SL
    Surv Ophthalmol; 2016; 61(6):745-758. PubMed ID: 27033945
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
    Ritter M; Vodopiutz J; Lechner S; Moser E; Schmidt-Erfurth UM; Janecke AR
    Br J Ophthalmol; 2013 Feb; 97(2):169-73. PubMed ID: 23143909
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
    Sergouniotis PI; Holder GE; Robson AG; Michaelides M; Webster AR; Moore AT
    Br J Ophthalmol; 2012 Feb; 96(2):213-7. PubMed ID: 21558291
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 3.