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Cognitive functioning in humans with mutations of the PAX6 gene.
Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. Thompson PJ, et al. Among authors: hanson im. Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62. Neurology. 2004. PMID: 15079031
Polymicrogyria and absence of pineal gland due to PAX6 mutation.
Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Mitchell TN, et al. Among authors: hanson im. Ann Neurol. 2003 May;53(5):658-63. doi: 10.1002/ana.10576. Ann Neurol. 2003. PMID: 12731001
Pax6: more than meets the eye.
Hanson I, Van Heyningen V. Hanson I, et al. Trends Genet. 1995 Jul;11(7):268-72. doi: 10.1016/s0168-9525(00)89073-3. Trends Genet. 1995. PMID: 7482776 Review.
A new PAX6 mutation in familial aniridia.
Hanson I, Brown A, van Heyningen V. Hanson I, et al. J Med Genet. 1995 Jun;32(6):488-9. doi: 10.1136/jmg.32.6.488. J Med Genet. 1995. PMID: 7666404 Free PMC article.
Aniridia.
Hingorani M, Hanson I, van Heyningen V. Hingorani M, et al. Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Eur J Hum Genet. 2012. PMID: 22692063 Free PMC article. Review.
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Ragge NK, et al. Among authors: hanson im. Am J Hum Genet. 2005 Jun;76(6):1008-22. doi: 10.1086/430721. Epub 2005 Apr 21. Am J Hum Genet. 2005. PMID: 15846561 Free PMC article.
68 results