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Journal Abstract Search

235 related items for PubMed ID: 27391953

  • 1. Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.
    Wang M, Gan D, Huang X, Xu G.
    BMC Ophthalmol; 2016 Jul 08; 16():101. PubMed ID: 27391953
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 3. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K, Hosono K, Hotta Y.
    Doc Ophthalmol; 2018 Aug 17; 137(1):47-56. PubMed ID: 30027431
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  • 8. Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.
    Lu L, Wang X, Lo D, Weng J, Liu X, Yang J, He F, Wang Y, Liu X.
    Oncotarget; 2016 Nov 29; 7(48):79797-79804. PubMed ID: 27806333
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  • 9. A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane.
    Gao Q, Liu Y, Lei X, Deng Q, Tong Y, Du L, Shen Y.
    Biochem Genet; 2019 Aug 29; 57(4):540-554. PubMed ID: 30652268
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  • 10. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
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  • 11. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
    Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.
    BMC Med Genet; 2010 Aug 10; 11():121. PubMed ID: 20696082
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  • 12. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul 10; 125(7):932-5. PubMed ID: 17620573
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  • 14. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
    Wang J, Xu D, Zhu T, Zhou Y, Chen X, Wang F, Zhang J, Tian H, Gao F, Zhang J, Jin C, Xu J, Lu L, Liu Q, Xu GT.
    Exp Eye Res; 2019 Nov 10; 188():107726. PubMed ID: 31319082
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  • 15. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
    Xiang Q, Guo Y, Cao Y, Xiong W, Deng X, Xu H, Li Y, Du D, Deng H.
    Optom Vis Sci; 2018 Dec 10; 95(12):1155-1161. PubMed ID: 30451805
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  • 16. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
    Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.
    Mol Vis; 2012 Dec 10; 18():2411-9. PubMed ID: 23077400
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  • 17. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Dec 10; 19():2187-95. PubMed ID: 24227914
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  • 18. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    PLoS One; 2014 Dec 10; 9(9):e108721. PubMed ID: 25268133
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  • 19. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
    Xi Q, Li L, Traboulsi EI, Wang QK.
    Mol Vis; 2009 Dec 10; 15():638-45. PubMed ID: 19352439
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  • 20. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
    Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ikeo K, Tsuneoka H, Iwata T.
    Doc Ophthalmol; 2014 Jun 10; 128(3):211-7. PubMed ID: 24652164
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