BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 26906952)

  • 1. Preserved visual function in retinal dystrophy due to hypomorphic
    Hull S; Holder GE; Robson AG; Mukherjee R; Michaelides M; Webster AR; Moore AT
    Br J Ophthalmol; 2016 Nov; 100(11):1499-1505. PubMed ID: 26906952
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The clinical features of retinal disease due to a dominant mutation in RPE65.
    Hull S; Mukherjee R; Holder GE; Moore AT; Webster AR
    Mol Vis; 2016; 22():626-35. PubMed ID: 27307694
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
    Weleber RG; Michaelides M; Trzupek KM; Stover NB; Stone EM
    Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):292-302. PubMed ID: 20811047
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
    Chung DC; Bertelsen M; Lorenz B; Pennesi ME; Leroy BP; Hamel CP; Pierce E; Sallum J; Larsen M; Stieger K; Preising M; Weleber R; Yang P; Place E; Liu E; Schaefer G; DiStefano-Pappas J; Elci OU; McCague S; Wellman JA; High KA; Reape KZ
    Am J Ophthalmol; 2019 Mar; 199():58-70. PubMed ID: 30268864
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S; Arno G; Robson AG; Broadgate S; Plagnol V; McKibbin M; Halford S; Michaelides M; Holder GE; Moore AT; Khan KN; Webster AR
    JAMA Ophthalmol; 2016 Sep; 134(9):992-1000. PubMed ID: 27386845
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
    Testa F; Murro V; Signorini S; Colombo L; Iarossi G; Parmeggiani F; Falsini B; Salvetti AP; Brunetti-Pierri R; Aprile G; Bertone C; Suppiej A; Romano F; Karali M; Donati S; Melillo P; Sodi A; Quaranta L; Rossetti L; Buzzonetti L; Chizzolini M; Rizzo S; Staurenghi G; Banfi S; Azzolini C; Simonelli F
    Invest Ophthalmol Vis Sci; 2022 Feb; 63(2):13. PubMed ID: 35129589
    [TBL] [Abstract][Full Text] [Related]  

  • 9. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
    Lopez-Rodriguez R; Lantero E; Blanco-Kelly F; Avila-Fernandez A; Martin Merida I; Del Pozo-Valero M; Perea-Romero I; Zurita O; Jiménez-Rolando B; Swafiri ST; Riveiro-Alvarez R; Trujillo-Tiebas MJ; Carreño Salas E; García-Sandoval B; Corton M; Ayuso C
    Exp Eye Res; 2021 Nov; 212():108761. PubMed ID: 34492281
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
    Paunescu K; Wabbels B; Preising MN; Lorenz B
    Graefes Arch Clin Exp Ophthalmol; 2005 May; 243(5):417-26. PubMed ID: 15565294
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early onset flecked retinal dystrophy associated with new compound heterozygous
    Katagiri S; Hosono K; Hayashi T; Kurata K; Mizobuchi K; Matsuura T; Yoshitake K; Iwata T; Nakano T; Hotta Y
    Mol Vis; 2018; 24():286-296. PubMed ID: 29681726
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Late presentation of RPE65 retinopathy in three siblings.
    Magliyah M; Saifaldein AA; Schatz P
    Doc Ophthalmol; 2020 Jun; 140(3):289-297. PubMed ID: 31925606
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
    Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S; Zobor G; Glöckle N; Mohr J; Kohl S; Zrenner E; Weisschuh N; Zobor D
    Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
    Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
    Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
    Papadopoulou Laiou C; Preising MN; Bolz HJ; Lorenz B
    Klin Monbl Augenheilkd; 2017 Mar; 234(3):289-302. PubMed ID: 28355663
    [No Abstract]   [Full Text] [Related]  

  • 17. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
    Li S; Xiao X; Yi Z; Sun W; Wang P; Zhang Q
    Acta Ophthalmol; 2020 Mar; 98(2):e181-e190. PubMed ID: 31273949
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
    Murro V; Mucciolo DP; Sodi A; Passerini I; Giorgio D; Virgili G; Rizzo S
    Graefes Arch Clin Exp Ophthalmol; 2019 Jan; 257(1):9-22. PubMed ID: 30324420
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
    Lorenz B; Poliakov E; Schambeck M; Friedburg C; Preising MN; Redmond TM
    Invest Ophthalmol Vis Sci; 2008 Dec; 49(12):5235-42. PubMed ID: 18599565
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.