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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. Among authors: hanson im. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 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.
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.
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 mutations in aniridia.
Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. Hanson IM, et al. Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915. Hum Mol Genet. 1993. PMID: 8364574
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