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Journal Abstract Search

177 related items for PubMed ID: 10955478

  • 21. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.
    Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M.
    Am J Med Genet A; 2008 Apr 01; 146A(7):813-9. PubMed ID: 18271001
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  • 22. 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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  • 23. No colobomas in "renal coloboma" syndrome.
    Parsa CF, Goldberg MF, Hunter DG.
    Ophthalmology; 2003 Feb 15; 110(2):251; author reply 251-2. PubMed ID: 12578762
    [No Abstract] [Full Text] [Related]

  • 24. [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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  • 25. Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia.
    Kivelä T, Salonen R, Paetau A.
    Acta Neuropathol; 1996 Feb 01; 91(5):511-8. PubMed ID: 8740232
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  • 26. PAX2 gene mutation in a family with isolated renal hypoplasia.
    Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N.
    J Am Soc Nephrol; 2001 Aug 01; 12(8):1769-1772. PubMed ID: 11461952
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  • 27. Congenital optic nerve colobomas: CT demonstration.
    Gardner TW, Zaparackas ZG, Naidich TP.
    J Comput Assist Tomogr; 1984 Feb 01; 8(1):95-102. PubMed ID: 6690529
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  • 28. Optic nerve coloboma associated with renal disease.
    Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M.
    Am J Med Genet; 1988 Mar 01; 29(3):597-605. PubMed ID: 3377002
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  • 34. Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
    Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M.
    Hum Mol Genet; 2000 Jan 01; 9(1):1-11. PubMed ID: 10587573
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  • 35. [Ocular coloboma and results of brain MRI: preliminary results].
    Denis D, Girard N, Levy-Mozziconacci A, Berbis J, Matonti F.
    J Fr Ophtalmol; 2013 Mar 01; 36(3):210-20. PubMed ID: 23177150
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  • 38. Predicting visual acuity in children with colobomas involving the optic nerve.
    Olsen TW, Summers CG, Knobloch WH.
    J Pediatr Ophthalmol Strabismus; 1996 Mar 01; 33(1):47-51. PubMed ID: 8965225
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