BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

510 related articles for article (PubMed ID: 25684977)

  • 1. Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
    Orosz O; Czeglédi M; Kántor I; Balogh I; Vajas A; Takács L; Berta A; Losonczy G
    Mol Vis; 2015; 21():124-30. PubMed ID: 25684977
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
    Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT
    Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3927-38. PubMed ID: 22570351
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
    Paunescu K; Preising MN; Janke B; Wissinger B; Lorenz B
    Ophthalmology; 2007 Jul; 114(7):1348-1357.e1. PubMed ID: 17320181
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
    Nakamura M; Hotta Y; Tanikawa A; Terasaki H; Miyake Y
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3925-32. PubMed ID: 11053295
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration.
    Pennesi ME; Cho JH; Yang Z; Wu SH; Zhang J; Wu SM; Tsai MJ
    J Neurosci; 2003 Jan; 23(2):453-61. PubMed ID: 12533605
    [TBL] [Abstract][Full Text] [Related]  

  • 8. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
    Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Slow-progressing photoreceptor cell degeneration in night blindness c mutant zebrafish.
    Maaswinkel H; Ren JQ; Li L
    J Neurocytol; 2003 Nov; 32(9):1107-16. PubMed ID: 15044842
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M; Holder GE; Hunt DM; Fitzke FW; Bird AC; Moore AT
    Br J Ophthalmol; 2005 Feb; 89(2):198-206. PubMed ID: 15665353
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
    Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P; Preising M; Lorenz B; Sander B; Larsen M; Rosenberg T
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic variation in enhanced S-cone syndrome.
    Audo I; Michaelides M; Robson AG; Hawlina M; Vaclavik V; Sandbach JM; Neveu MM; Hogg CR; Hunt DM; Moore AT; Bird AC; Webster AR; Holder GE
    Invest Ophthalmol Vis Sci; 2008 May; 49(5):2082-93. PubMed ID: 18436841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T; Gekka T; Takeuchi T; Goto-Omoto S; Kitahara K
    Ophthalmology; 2007 Jan; 114(1):134-41. PubMed ID: 17070587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
    Fakin A; Robson AG; Fujinami K; Moore AT; Michaelides M; Pei-Wen Chiang J; E Holder G; Webster AR
    Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4668-78. PubMed ID: 27583828
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS; Uyhazi KE; Serrano LW; Vasireddy V; Bowman SJ; Ammar MJ; Pearson DJ; Maguire AM; Bennett J
    Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):5225-5236. PubMed ID: 30372751
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y; Ooto S; Hangai M; Ogino K; Gotoh N; Oishi A; Yoshimura N
    Am J Ophthalmol; 2014 Mar; 157(3):558-70.e1-4. PubMed ID: 24246574
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.