BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 35994252)

  • 1. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
    Wang J; Wang Y; Li S; Xiao X; Yi Z; Jiang Y; Li X; Jia X; Wang P; Jin C; Sun W; Zhang Q
    Invest Ophthalmol Vis Sci; 2022 Aug; 63(9):24. PubMed ID: 35994252
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Macula-predominant retinopathy associated with biallelic variants in
    Ba-Abbad R; Arno G; Robson AG; Bouras K; Georgiou M; Wright G; Webster AR; Michaelides M
    Ophthalmic Genet; 2020 Dec; 41(6):612-615. PubMed ID: 32790509
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypomorphic
    Farag S; Yusuf IH; Kaukonen M; Taylor LJ; Charbel Issa P; MacLaren RE
    Ophthalmic Genet; 2024 Apr; 45(2):201-206. PubMed ID: 37728066
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanding the phenotypic spectrum in RDH12-associated retinal disease.
    Scott HA; Place EM; Ferenchak K; Zampaglione E; Wagner NE; Chao KR; DiTroia SP; Navarro-Gomez D; Mukai S; Huckfeldt RM; Pierce EA; Bujakowska KM
    Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014858
    [TBL] [Abstract][Full Text] [Related]  

  • 7. RDH12 retinopathy: novel mutations and phenotypic description.
    Mackay DS; Dev Borman A; Moradi P; Henderson RH; Li Z; Wright GA; Waseem N; Gandra M; Thompson DA; Bhattacharya SS; Holder GE; Webster AR; Moore AT
    Mol Vis; 2011; 17():2706-16. PubMed ID: 22065924
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A; Janecke AR; Wilke R; Schmid E; Thompson DA; Utermann G; Wissinger B; Zrenner E; Gal A
    Invest Ophthalmol Vis Sci; 2007 Apr; 48(4):1824-31. PubMed ID: 17389517
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel
    Smirnov V; Grunewald O; Muller J; Zeitz C; Obermaier CD; Devos A; Pelletier V; Bocquet B; Andrieu C; Bacquet JL; Lebredonchel E; Mohand-Saïd S; Defoort-Dhellemmes S; Sahel JA; Dollfus H; Zanlonghi X; Audo I; Meunier I; Boulanger-Scemama E; Dhaenens CM
    Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34203883
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
    Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
    Thompson DA; Janecke AR; Lange J; Feathers KL; Hübner CA; McHenry CL; Stockton DW; Rammesmayer G; Lupski JR; Antinolo G; Ayuso C; Baiget M; Gouras P; Heckenlively JR; den Hollander A; Jacobson SG; Lewis RA; Sieving PA; Wissinger B; Yzer S; Zrenner E; Utermann G; Gal A
    Hum Mol Genet; 2005 Dec; 14(24):3865-75. PubMed ID: 16269441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
    Sun W; Gerth C; Maeda A; Lodowski DT; Van Der Kraak L; Saperstein DA; Héon E; Palczewski K
    Vision Res; 2007 Jul; 47(15):2055-66. PubMed ID: 17512964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.
    Xin W; Xiao X; Li S; Zhang Q
    Ophthalmic Genet; 2016 Sep; 37(3):345-8. PubMed ID: 26848971
    [No Abstract]   [Full Text] [Related]  

  • 14. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
    Daich Varela M; Moya R; Azevedo Souza Amaral R; Schlottmann PG; Álvarez Mendiara A; Francone A; Guazi Resende R; Capalbo L; Gelvez N; López G; Morales-Acevedo AM; Ossa RH; Arno G; Michaelides M; Tamayo ML; Ferraz Sallum JM
    Ophthalmol Retina; 2024 Feb; 8(2):163-173. PubMed ID: 37714431
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
    Mizobuchi K; Hayashi T; Katagiri S; Yoshitake K; Fujinami K; Yang L; Kuniyoshi K; Shinoda K; Machida S; Kondo M; Ueno S; Terasaki H; Matsuura T; Tsunoda K; Iwata T; Nakano T
    Sci Rep; 2019 Nov; 9(1):16851. PubMed ID: 31728034
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous and heterozygous retinal phenotypes in families harbouring
    Khan AO; Al Teneiji AM
    Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
    [No Abstract]   [Full Text] [Related]  

  • 17. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
    Li Y; Pan Q; Gu YS
    J Zhejiang Univ Sci B; 2017 May; 18(5):421-429. PubMed ID: 28471114
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detailed clinical characterisation, unique features and natural history of autosomal recessive
    Fahim AT; Bouzia Z; Branham KH; Kumaran N; Vargas ME; Feathers KL; Perera ND; Young K; Khan NW; Heckenlively JR; Webster AR; Pennesi ME; Ali RR; Thompson DA; Michaelides M
    Br J Ophthalmol; 2019 Dec; 103(12):1789-1796. PubMed ID: 30979730
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
    Yi Z; Sun W; Xiao X; Li S; Jia X; Li X; Yu B; Wang P; Zhang Q
    Exp Eye Res; 2021 Jul; 208():108637. PubMed ID: 34048777
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variants at codon 838 in the
    Sun Z; Wu S; Zhu T; Li H; Wei X; Du H; Sui R
    Ophthalmic Genet; 2020 Dec; 41(6):548-555. PubMed ID: 32811265
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.