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Journal Abstract Search

268 related items for PubMed ID: 30820146

  • 1. Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
    Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M.
    Mol Vis; 2019; 25():106-117. PubMed ID: 30820146
    [Abstract] [Full Text] [Related]

  • 2. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
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  • 3. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
    Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI.
    Invest Ophthalmol Vis Sci; 2019 May 01; 60(6):2049-2063. PubMed ID: 31074760
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  • 4. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
    Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP.
    PLoS One; 2015 May 01; 10(3):e0119806. PubMed ID: 25775262
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  • 5. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
    Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.
    Mol Vis; 2018 May 01; 24():326-339. PubMed ID: 29769798
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  • 6. Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
    Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM.
    J Med Genet; 2024 Jun 20; 61(7):613-620. PubMed ID: 38499336
    [Abstract] [Full Text] [Related]

  • 7. Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
    Huang H, Wang Y, Chen H, Chen Y, Wu J, Chiang PW, Fan N, Su Y, Deng J, Chen D, Li Y, Zhang X, Zhang M, Liang S, Banerjee S, Qi M, Liu X.
    Oncotarget; 2017 May 23; 8(21):35176-35183. PubMed ID: 28456785
    [Abstract] [Full Text] [Related]

  • 8. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
    Bernardis I, Chiesi L, Tenedini E, Artuso L, Percesepe A, Artusi V, Simone ML, Manfredini R, Camparini M, Rinaldi C, Ciardella A, Graziano C, Balducci N, Tranchina A, Cavallini GM, Pietrangelo A, Marigo V, Tagliafico E.
    Biomed Res Int; 2016 May 23; 2016():6341870. PubMed ID: 28127548
    [Abstract] [Full Text] [Related]

  • 9. Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
    Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.
    Eur J Hum Genet; 2013 Nov 23; 21(11):1266-71. PubMed ID: 23443024
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  • 11. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
    Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K, JEGC study group.
    Sci Rep; 2020 Mar 26; 10(1):5497. PubMed ID: 32218477
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  • 14. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
    Yi Z, Xiao X, Li S, Sun W, Zhang Q.
    Exp Eye Res; 2019 Dec 26; 189():107846. PubMed ID: 31626798
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  • 17. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
    Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I.
    Int J Mol Sci; 2021 Nov 23; 22(23):. PubMed ID: 34884448
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  • 18. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.
    Salehi Chaleshtori AR, Garshasbi M, Salehi A, Noruzinia M.
    Eur J Med Genet; 2020 Mar 23; 63(3):103750. PubMed ID: 31470097
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