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PUBMED FOR HANDHELDS

Journal Abstract Search


117 related items for PubMed ID: 36916241

  • 1. Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.
    Zhou L, Wang G, Hu B, Jiang H, Jiang F, Xu Z.
    Eur J Ophthalmol; 2024 Jan; 34(1):NP12-NP17. PubMed ID: 36916241
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  • 3. New mutations in GJA8 expand the phenotype to include total sclerocornea.
    Ma AS, Grigg JR, Prokudin I, Flaherty M, Bennetts B, Jamieson RV.
    Clin Genet; 2018 Jan; 93(1):155-159. PubMed ID: 28455998
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  • 4. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
    Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K, DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.
    Hum Genet; 2019 Sep; 138(8-9):1027-1042. PubMed ID: 29464339
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  • 6. Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
    Shi J, Sun T, Xu K, Zhang X, Li Y.
    BMC Ophthalmol; 2023 Apr 19; 23(1):165. PubMed ID: 37076855
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  • 10. Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
    Sun W, Xiao X, Li S, Guo X, Zhang Q.
    Mol Vis; 2011 Apr 19; 17():1508-13. PubMed ID: 21686328
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  • 11. Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
    Xia CH, Chang B, Derosa AM, Cheng C, White TW, Gong X.
    PLoS One; 2012 Apr 19; 7(12):e52894. PubMed ID: 23300808
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  • 12. Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.
    Lin Y, Chen X, Liang C, Li D, Liu L, Li X.
    Eur J Ophthalmol; 2023 Sep 19; 33(5):NP1-NP4. PubMed ID: 36262071
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  • 13. Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
    Huang X, Xiao X, Jia X, Li S, Li M, Guo X, Liu X, Zhang Q.
    Int J Mol Med; 2015 Oct 19; 36(4):1111-7. PubMed ID: 26310487
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  • 14. Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
    Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R.
    Mol Vis; 2011 Mar 11; 17():693-707. PubMed ID: 21423869
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  • 15. X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
    Yan N, Xiao L, Hou C, Guo B, Fan W, Deng Y, Ma K.
    BMC Med Genet; 2019 Mar 19; 20(1):41. PubMed ID: 30890130
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  • 16. Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.
    Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB.
    PLoS One; 2017 Mar 19; 12(8):e0183438. PubMed ID: 28827829
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  • 17. Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.
    Zhou L, Sun X, Wang X, Liu K, Zhong Z, Chen J.
    Mol Genet Genomics; 2022 Nov 19; 297(6):1553-1564. PubMed ID: 35980487
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  • 18. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
    Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A.
    Eur J Hum Genet; 2015 Mar 19; 23(3):337-41. PubMed ID: 24939590
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  • 19. Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
    Ren M, Yang XG, Dang XJ, Xiao JA.
    Graefes Arch Clin Exp Ophthalmol; 2017 Jan 19; 255(1):141-151. PubMed ID: 27785597
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  • 20. Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract.
    Jabbarpour N, Saei H, Jabbarpoor Bonyadi MH, Bonyadi M.
    Ophthalmic Genet; 2022 Oct 19; 43(5):609-614. PubMed ID: 35726576
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