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173 related items for PubMed ID: 34157943

  • 1. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
    Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM.
    Ophthalmic Genet; 2021 Oct; 42(5):553-560. PubMed ID: 34157943
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  • 2. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
    Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J.
    Ophthalmic Genet; 2019 Apr; 40(2):110-117. PubMed ID: 30870047
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  • 7. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
    Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U, Bähr L, Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W.
    Int J Mol Sci; 2022 Jul 02; 23(13):. PubMed ID: 35806387
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  • 8. RPE65 and retinal dystrophy: Report of new and recurrent mutations.
    Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z, Khorram Khorshid HR, Ghadami M.
    J Gene Med; 2020 Mar 02; 22(3):e3154. PubMed ID: 31957135
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  • 10. Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
    Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR.
    Orphanet J Rare Dis; 2020 Dec 11; 15(1):345. PubMed ID: 33308271
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  • 18. 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 11; 120(6):1239-46. PubMed ID: 23499059
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  • 20. Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
    Zhong Z, Rong F, Dai Y, Yibulayin A, Zeng L, Liao J, Wang L, Huang Z, Zhou Z, Chen J.
    Mol Vis; 2019 Jun 11; 25():204-214. PubMed ID: 30996589
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