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Page 1
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
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
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.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Williamson KA, et al. Among authors: hanson im. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700164 Free PMC article.
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.
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
Aijaz S, Clark BJ, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, Collin R, Ragge N, Christoforou A, Brown A, Hanson I. Aijaz S, et al. Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3871-6. doi: 10.1167/iovs.04-0641. Invest Ophthalmol Vis Sci. 2004. PMID: 15505031
68 results