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Journal Abstract Search

177 related items for PubMed ID: 10955478

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  • 4. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
    Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB.
    Am J Med Genet; 1995 Nov 06; 59(2):204-8. PubMed ID: 8588587
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  • 5. [Renal-coloboma syndrome].
    Asensio Sánchez VM, Corral Azor A, Bartolomé Aragón A, De Paz García M.
    Arch Soc Esp Oftalmol; 2002 Nov 06; 77(11):635-8. PubMed ID: 12410411
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  • 9. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
    Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI.
    J Am Soc Nephrol; 2005 Sep 06; 16(9):2754-61. PubMed ID: 16049068
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  • 11. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
    Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB.
    Hum Mutat; 1999 Sep 06; 14(5):369-76. PubMed ID: 10533062
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  • 12. 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 Sep 06; 10(11):e0142843. PubMed ID: 26571382
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  • 13. 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 06; 35(10):806-12. PubMed ID: 9783702
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  • 15. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
    Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A.
    Hum Genet; 1998 Aug 06; 103(2):149-53. PubMed ID: 9760197
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  • 16. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
    Eccles MR, Schimmenti LA.
    Clin Genet; 1999 Jul 06; 56(1):1-9. PubMed ID: 10466411
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  • 17. Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
    Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF.
    Eur J Ophthalmol; 2008 Jul 06; 18(4):656-8. PubMed ID: 18609495
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  • 18. 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 06; 55(3):211-5. PubMed ID: 22361651
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  • 20. Early diagnosis of the papillorenal syndrome by optic disc morphology.
    Khan AO, Nowilaty SR.
    J Neuroophthalmol; 2005 Sep 06; 25(3):209-11. PubMed ID: 16148630
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