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Journal Abstract Search


271 related items for PubMed ID: 26571382

  • 1. Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
    Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, Hara A, Iwata Y, Sakai N, Sugiyama K, Kaneko S, Wada T.
    PLoS One; 2015; 10(11):e0142843. PubMed ID: 26571382
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  • 4. Diverse phenotypes in children with PAX2-related disorder.
    Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J.
    Mol Genet Genomic Med; 2019 Jun; 7(6):e701. PubMed ID: 31060108
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  • 5. PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability.
    Giovanella S, Pasini A, Ligabue G, Testa F, Mori G, Tagliafico E, Magistroni R.
    Nephron; 2023 Jun; 147(2):120-126. PubMed ID: 35790137
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  • 7. The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
    Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ.
    Hum Mol Genet; 2011 Jan 15; 20(2):223-34. PubMed ID: 20943750
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  • 9. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
    Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR.
    Nat Genet; 1995 Apr 15; 9(4):358-64. PubMed ID: 7795640
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  • 10. Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).
    Aydin B, Dilli D, Beken S, Zenciroglu A, Uzunalic N, Yuksekkaya P, Akyuz SG, Aydog O, Okumus N.
    Genet Couns; 2013 Apr 15; 24(2):201-5. PubMed ID: 24032291
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  • 12. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.
    Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G.
    Am J Med Genet A; 2012 Jun 15; 158A(6):1437-41. PubMed ID: 22581475
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  • 17. New ocular phenotype associated with a mutation in the PAX2 gene.
    Beby F, Roche O, Cochat P, Ranchin B, Kohler R, Bonifas C, Cordier MP, Attie-Bitach T, Burillon C, Denis P.
    Eye (Lond); 2010 Jul 15; 24(7):1293-4. PubMed ID: 20075965
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  • 18. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
    Schimmenti LA, Manligas GS, Sieving PA.
    Ophthalmic Genet; 2003 Dec 15; 24(4):191-202. PubMed ID: 14566649
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