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Journal Abstract Search

214 related items for PubMed ID: 20486942

  • 1. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
    Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.
    Clin Genet; 2011 Feb; 79(2):158-68. PubMed ID: 20486942
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  • 2. 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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  • 3. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
    Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S.
    Eur J Med Genet; 2015 Feb; 58(2):66-70. PubMed ID: 25542770
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  • 8. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
    Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM.
    BMC Med Genet; 2011 Dec 28; 12():172. PubMed ID: 22204637
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  • 9. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.
    Clin Genet; 2014 Oct 28; 86(4):326-34. PubMed ID: 24033328
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  • 10. The phenotypic spectrum associated with OTX2 mutations in humans.
    Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT.
    Eur J Endocrinol; 2021 May 25; 185(1):121-135. PubMed ID: 33950863
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  • 12. 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 25; 5(6):709-719. PubMed ID: 29178648
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  • 15. Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family.
    You T, Lv Y, Liu S, Li F, Zhao Y, Lv J, Qiu G, Li-Ling J.
    Acta Ophthalmol; 2012 Sep 25; 90(6):e501-2. PubMed ID: 22268617
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  • 16. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
    Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV.
    Am J Med Genet A; 2009 Dec 25; 149A(12):2706-15. PubMed ID: 19921648
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