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Journal Abstract Search

303 related items for PubMed ID: 25457163

  • 1. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
    Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO.
    Clin Genet; 2015 Nov; 88(5):468-73. PubMed ID: 25457163
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  • 4. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.
    Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
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  • 6. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
    Riera M, Wert A, Nieto I, Pomares E.
    Mol Genet Genomic Med; 2017 Nov; 5(6):709-719. PubMed ID: 29178648
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  • 7. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
    Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC.
    J Hum Genet; 2018 Nov; 63(11):1169-1180. PubMed ID: 30181649
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  • 9. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG, Rajkumar S, Vasavada AR.
    Ophthalmic Genet; 2018 Jun; 39(3):344-352. PubMed ID: 29461140
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  • 12. The genetic architecture of microphthalmia, anophthalmia and coloboma.
    Williamson KA, FitzPatrick DR.
    Eur J Med Genet; 2014 Aug; 57(8):369-80. PubMed ID: 24859618
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  • 13. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.
    Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
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  • 20. The genetics of anophthalmia and microphthalmia.
    Bardakjian TM, Schneider A.
    Curr Opin Ophthalmol; 2011 Sep; 22(5):309-13. PubMed ID: 21825993
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