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Journal Abstract Search

98 related items for PubMed ID: 8673093

  • 1. Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
    Sanyanusin P, Schimmenti LA, McNoe TA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR.
    Nat Genet; 1996 May; 13(1):129. PubMed ID: 8673093
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  • 6. [Genetic basis for malformation-associated uropathy and renal dysplasia].
    Oppezzo C, Barberis V, Edefonti A, Cusi D, Marra G.
    G Ital Nefrol; 2003 May; 20(2):120-6. PubMed ID: 12746796
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  • 9. [Infrequent mutation in renal-coloboma syndrome: case report and review].
    Ruiz Del Olmo Izuzquiza I, Romero Salas Y, Rodríguez Valle A, González Viejo I, Justa Roldán ML.
    Arch Argent Pediatr; 2018 Feb 01; 116(1):e106-e109. PubMed ID: 29333833
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  • 11. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
    Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR.
    J Med Genet; 1998 Oct 01; 35(10):806-12. PubMed ID: 9783702
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  • 13. A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.
    Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E.
    Eur J Med Genet; 2012 Mar 01; 55(3):211-5. PubMed ID: 22361651
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  • 16. Renal-coloboma syndrome in a Brazilian family.
    Gus PI, de Souza CF, Porteous S, Eccles M, Giugliani R.
    Arch Ophthalmol; 2001 Oct 01; 119(10):1563-5. PubMed ID: 11594973
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  • 17. A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.
    Al-Gazali LI, Bakir M, Hamid ZM, Nair DK, Haas D, Amirlak I, Rushdi A.
    Clin Dysmorphol; 2000 Jul 01; 9(3):183-8. PubMed ID: 10955478
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  • 18. Papillorenal syndrome after Beta-interferon treatment in pregnancy.
    Gucev ZS, Kirovski I, Jancevska A, Popjordanova N, Tasic V.
    Ren Fail; 2009 Jul 01; 31(7):602-5. PubMed ID: 19839859
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  • 19. 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 Jul 01; 24(2):201-5. PubMed ID: 24032291
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  • 20. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
    Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR.
    Am J Hum Genet; 1997 Apr 01; 60(4):869-78. PubMed ID: 9106533
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