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Journal Abstract Search

180 related items for PubMed ID: 33300417

  • 1. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
    Lind KT, Cost NG, Zegar K, Kuldanek SA, Enzenauer RW, Schneider KW.
    Ophthalmic Genet; 2021 Apr; 42(2):216-217. PubMed ID: 33300417
    [Abstract] [Full Text] [Related]

  • 2. Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.
    Gupta SK, De Becker I, Guernsey DL, Neumann PE.
    Am J Ophthalmol; 1998 May; 125(5):687-92. PubMed ID: 9625553
    [Abstract] [Full Text] [Related]

  • 3. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
    Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T.
    Hum Genet; 2001 Jul; 109(1):11-8. PubMed ID: 11479730
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  • 4. Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement.
    Torrefranca AB, Carmona SM, Santiago APD, Cutiongco-Dela Paz E, Lingao MD.
    Ophthalmic Genet; 2023 Oct; 44(5):501-504. PubMed ID: 36440799
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  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Moosajee M, Hingorani M, Moore AT.
    ; 1993 Oct. PubMed ID: 20301534
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  • 6. [Molecular genetic study of the PAX6 gene in aniridia patients].
    Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G.
    Ophthalmologe; 1998 Dec; 95(12):828-30. PubMed ID: 10025146
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  • 7. [Two neonates with congenital aniridia: the necessity of genetic investigation].
    van Os E, Niemarkt HJ, Verreussel MJ, Cruysberg JR, Bok LA, Spruijt L.
    Ned Tijdschr Geneeskd; 2008 Mar 08; 152(10):569-73. PubMed ID: 18402324
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  • 12. Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients.
    Muto R, Yamamori S, Ohashi H, Osawa M.
    Am J Med Genet; 2002 Apr 01; 108(4):285-9. PubMed ID: 11920832
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  • 15. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
    Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA.
    Clin Genet; 2017 Dec 01; 92(6):639-644. PubMed ID: 28321846
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  • 16. Mutation in the PAX6 gene in twenty patients with aniridia.
    Chao LY, Huff V, Strong LC, Saunders GF.
    Hum Mutat; 2000 Dec 01; 15(4):332-9. PubMed ID: 10737978
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  • 17. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
    Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P.
    Mol Vis; 2015 Dec 01; 21():88-97. PubMed ID: 25678763
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