BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 26782618)

  • 1. Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
    Piermarocchi S; Segato T; Leon A; Colavito D; Miotto S
    Mol Med Rep; 2016 Mar; 13(3):2308-12. PubMed ID: 26782618
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterizing the phenotype and genotype of a family with occult macular dystrophy.
    Chen CJ; Scholl HP; Birch DG; Iwata T; Miller NR; Goldberg MF
    Arch Ophthalmol; 2012 Dec; 130(12):1554-9. PubMed ID: 23229695
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
    Kato Y; Hanazono G; Fujinami K; Hatase T; Kawamura Y; Iwata T; Miyake Y; Tsunoda K
    Invest Ophthalmol Vis Sci; 2017 Dec; 58(14):6020-6029. PubMed ID: 29196766
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and genetic characteristics of Korean occult macular dystrophy patients.
    Ahn SJ; Cho SI; Ahn J; Park SS; Park KH; Woo SJ
    Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4856-63. PubMed ID: 23745001
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.
    Tsunoda K; Usui T; Hatase T; Yamai S; Fujinami K; Hanazono G; Shinoda K; Ohde H; Akahori M; Iwata T; Miyake Y
    Retina; 2012 Jun; 32(6):1135-47. PubMed ID: 22466457
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
    Hayashi T; Gekka T; Kozaki K; Ohkuma Y; Tanaka I; Yamada H; Tsuneoka H
    Optom Vis Sci; 2012 May; 89(5):684-91. PubMed ID: 22504327
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
    Akahori M; Tsunoda K; Miyake Y; Fukuda Y; Ishiura H; Tsuji S; Usui T; Hatase T; Nakamura M; Ohde H; Itabashi T; Okamoto H; Takada Y; Iwata T
    Am J Hum Genet; 2010 Sep; 87(3):424-9. PubMed ID: 20826268
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A variant in the
    Hiraoka M; Ishikawa A; Matsuzawa F; Aikawa SI; Sakurai A
    Ophthalmic Genet; 2020 Dec; 41(6):599-605. PubMed ID: 32940107
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
    Fujinami K; Kameya S; Kikuchi S; Ueno S; Kondo M; Hayashi T; Shinoda K; Machida S; Kuniyoshi K; Kawamura Y; Akahori M; Yoshitake K; Katagiri S; Nakanishi A; Sakuramoto H; Ozawa Y; Tsubota K; Yamaki K; Mizota A; Terasaki H; Miyake Y; Iwata T; Tsunoda K
    Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4837-46. PubMed ID: 27623337
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
    Kabuto T; Takahashi H; Goto-Fukuura Y; Igarashi T; Akahori M; Kameya S; Iwata T; Mizota A; Yamaki K; Miyake Y; Takahashi H
    Mol Vis; 2012; 18():1031-9. PubMed ID: 22605915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Occult Macular Dystrophy: a case report and major review.
    Luoma-Overstreet G; Jewell A; Brar V; Couser N
    Ophthalmic Genet; 2022 Oct; 43(5):703-708. PubMed ID: 35765812
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Occult macular dystrophy.
    Miyake Y; Tsunoda K
    Jpn J Ophthalmol; 2015 Mar; 59(2):71-80. PubMed ID: 25665791
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
    Wang DD; Gao FJ; Li JK; Chen F; Hu FY; Xu GZ; Zhang JG; Sun HX; Zhang SH; Xu P; Tian GH; Wu JH
    Invest Ophthalmol Vis Sci; 2020 Mar; 61(3):10. PubMed ID: 32176261
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene.
    Okuno T; Hayashi T; Sugasawa J; Oku H; Yamada H; Tsuneoka H; Ikeda T
    Doc Ophthalmol; 2013 Oct; 127(2):141-6. PubMed ID: 23619761
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION.
    Fu Y; Chen KJ; Lai CC; Wu WC; Wang NK
    Retin Cases Brief Rep; 2019 Spring; 13(2):158-161. PubMed ID: 28195981
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spinocerebellar ataxia type 7 with
    Park JY; Wy SY; Joo K; Woo SJ
    Ophthalmic Genet; 2019 Jun; 40(3):282-285. PubMed ID: 31269856
    [No Abstract]   [Full Text] [Related]  

  • 17. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
    Takahashi H; Hayashi T; Tsuneoka H; Nakano T; Yamada H; Katagiri S; Fujino Y; Noda Y; Yoshimoto M; Kawashima H
    Doc Ophthalmol; 2014 Aug; 129(1):49-56. PubMed ID: 24838559
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
    Zobor D; Zobor G; Hipp S; Baumann B; Weisschuh N; Biskup S; Sliesoraityte I; Zrenner E; Kohl S
    Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3041-3052. PubMed ID: 30025130
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.
    Bianco L; Arrigo A; Antropoli A; Carrera P; Spiga I; Patricelli MG; Bandello F; Battaglia Parodi M
    Am J Ophthalmol Case Rep; 2022 Jun; 26():101550. PubMed ID: 35509282
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Miyake's disease].
    Tsunoda K
    Nihon Rinsho; 2013 Feb; 71(2):355-64. PubMed ID: 23631221
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.