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346 related items for PubMed ID: 27375279

  • 1. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
    Xu Y, Xiao X, Li S, Jia X, Xin W, Wang P, Sun W, Huang L, Guo X, Zhang Q.
    Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
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  • 3. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Han J, Rim JH, Hwang IS, Kim J, Shin S, Lee ST, Choi JR.
    Mol Vis; 2017 Aug; 23():649-659. PubMed ID: 28966547
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  • 4. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
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  • 9. 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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  • 11. Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
    Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Trinavarat A, Atchaneeyasakul LO.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2413-2420. PubMed ID: 28453600
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  • 12. Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
    Skorczyk-Werner A, Sowińska-Seidler A, Wawrocka A, Walczak-Sztulpa J, Krawczyński MR.
    J Appl Genet; 2023 Feb 01; 64(1):89-104. PubMed ID: 36369640
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  • 14. The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
    Feng X, Wei T, Sun J, Luo Y, Huo Y, Yu P, Chen J, Wei X, Qi M, Ye Y.
    PLoS One; 2020 Feb 01; 15(4):e0231115. PubMed ID: 32255808
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  • 15. 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 01; 34(11):1537-1546. PubMed ID: 23946133
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  • 16. Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
    Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M.
    J Genet; 2021 Nov 01; 100():. PubMed ID: 34470921
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  • 17. Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
    Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.
    Br J Ophthalmol; 2014 Dec 01; 98(12):1724-8. PubMed ID: 24997176
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  • 18. Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
    Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM.
    Arch Ophthalmol; 2000 Apr 01; 118(4):538-43. PubMed ID: 10766140
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  • 19. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
    Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Mar 01; 47(3):1167-76. PubMed ID: 16505055
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  • 20. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
    Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, Xu Y, Xin W, Guo X, Zhang Q.
    Exp Eye Res; 2016 May 01; 146():252-258. PubMed ID: 26992781
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