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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: van heyningen v. 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.
The human PAX6 gene is mutated in two patients with aniridia.
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. Jordan T, et al. Among authors: van heyningen v. Nat Genet. 1992 Aug;1(5):328-32. doi: 10.1038/ng0892-328. Nat Genet. 1992. PMID: 1302030
Pax6: more than meets the eye.
Hanson I, Van Heyningen V. Hanson I, et al. Among authors: van heyningen v. 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. Among authors: van heyningen v. 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.
Towards an understanding of Wilms' tumour.
Williamson KA, Van Heyningen V. Williamson KA, et al. Among authors: van heyningen v. Int J Exp Pathol. 1994 Jun;75(3):147-55. Int J Exp Pathol. 1994. PMID: 8086311 Free PMC article. Review.
PAX6 mutations in aniridia.
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. Hanson IM, et al. Among authors: van heyningen v. Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915. Hum Mol Genet. 1993. PMID: 8364574
237 results