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Journal Abstract Search

246 related items for PubMed ID: 31390656

  • 1. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
    Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K, Japan Eye Genetics Consortium.
    Invest Ophthalmol Vis Sci; 2019 Aug 01; 60(10):3432-3446. PubMed ID: 31390656
    [Abstract] [Full Text] [Related]

  • 2. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
    Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H.
    Ophthalmic Genet; 2018 Apr 01; 39(2):255-262. PubMed ID: 29220607
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  • 3. Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
    Yanık Ö, Batıoğlu F, Sahin Y, Demirel S, Özmert E.
    Ophthalmic Genet; 2023 Aug 01; 44(4):389-395. PubMed ID: 36094084
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  • 5. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
    Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA.
    Invest Ophthalmol Vis Sci; 2020 Oct 01; 61(12):1. PubMed ID: 33001157
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  • 7. Multimodal imaging of a case of peripheral cone dystrophy.
    Ito N, Kameya S, Gocho K, Hayashi T, Kikuchi S, Katagiri S, Gekka T, Yamaki K, Takahashi H, Tsuneoka H.
    Doc Ophthalmol; 2015 Jun 01; 130(3):241-51. PubMed ID: 25708979
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  • 9. 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 01; 120(6):1239-46. PubMed ID: 23499059
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  • 12. Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.
    Jin X, Chen L, Wang D, Zhang Y, Chen Z, Huang H.
    Ophthalmic Genet; 2018 Jun 01; 39(3):300-306. PubMed ID: 29377742
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  • 13. 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 01; 49(2):751-7. PubMed ID: 18235024
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  • 14. Two cases of unilateral cone-rod dysfunction with negative electroretinograms.
    Ozawa K, Takahashi S, Mochizuki K, Miyake Y.
    Doc Ophthalmol; 2019 Dec 01; 139(3):247-256. PubMed ID: 31375969
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  • 15. Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
    Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E.
    Ophthalmology; 2018 May 01; 125(5):725-734. PubMed ID: 29276052
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  • 17. 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 01; 243(5):417-26. PubMed ID: 15565294
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  • 18. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
    Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK.
    Arch Ophthalmol; 2011 Nov 01; 129(11):1475-82. PubMed ID: 22084217
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  • 19. Natural history and biomarkers of KCNV2-associated retinopathy.
    Sakti DH, Cornish EE, Ali H, Retsas S, Raza M, Saakova N, Carvalho LS, Nash BM, Jamieson RV, Grigg JR.
    Clin Exp Ophthalmol; 2024 Jul 01; 52(5):528-544. PubMed ID: 38443311
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  • 20. 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 01; 41(6):1346-1355. PubMed ID: 34001834
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