| 1 | ANOP3, SOX2
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| SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
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| Ragge NK, Quaghebeur G, Stewart H.
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| Clin Genet 83(5):482-4. doi: 10.1111/j.1399-0004.2012.01922.x. Epub 2012 Jul 27. No abstract available.
2013
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| 2 | ANOP3, SOX2
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| Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
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| Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV.
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| Eur J Hum Genet 19(7):753-6. doi: 10.1038/ejhg.2011.11. Epub 2011 Feb 16.
2011
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| 3 | ANOP3, SOX2
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| Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
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| Numakura C, Kitanaka S, Kato M, Ishikawa S, Hamamoto Y, Katsushima Y, Kimura T, Hayasaka K.
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| Am J Med Genet A 152A(9):2355-9. 2010
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| 4 | ANOP3, SOX2
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| Novel SOX2 partner-factor domain mutation in a four-generation family.
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| Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV.
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| Eur J Hum Genet 17(11):1417-22. Epub 2009 May 27.PMID: 19471311 2009
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| 5 | ANOP3, SOX2
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| Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
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| Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV.
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| Am J Med Genet A 149A(12):2706-15.PMID: 19921648 2009
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| 6 | ANOP3, SOX2
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| Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
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| Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL.
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| Am J Med Genet A 146A(21):2794-8.
2008
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| 7 | ANOP3, SOX2
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| Novel SOX2 mutation associated with ocular coloboma in a Chinese family.
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| Wang P, Liang X, Yi J, Zhang Q.
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| Arch Ophthalmol 126(5):709-13.PMID: 18474784 2008
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| 8 | SOX2, ANOP3
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| Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
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| Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P.
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| Am J Med Genet A 143(3):289-91. No abstract available. 2007
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| 9 | SOX2, ANOP3
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| Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
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| Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR.
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| Hum Mol Genet 15(9):1413-22. Epub 2006 Mar 16. 2006
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| 10 | SOX2, ANOP3
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| Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.
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| Zenteno JC, Perez-Cano HJ, Aguinaga M.
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| Am J Med Genet A 140(18):1899-903. 2006
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| 11 | SOX2, ANOP3
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| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
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| Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT.
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| J Clin Invest 116(9):2442-55. Epub 2006 Aug 24. 2006
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| 12 | SOX2, ANOP3
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| SOX2 anophthalmia syndrome.
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| Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR.
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| Am J Med Genet A 135(1):1-7; discussion 8. 2005
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| 13 | SOX2, ANOP3
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| SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
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| Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI.
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| Am J Med Genet A 138(2):95-8. 2005
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| 14 | SOX2, ANOP3
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| Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
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| Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL.
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| Clin Genet 68(6):564-6. No abstract available. 2005
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| 15 | ANOP3, SOX2, SOX2OT
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| Mutations in SOX2 cause anophthalmia.
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| Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN,Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.
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| Nat Genet 33(4):461-3. Epub 2003 Mar 03. 2003
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