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Page 1
Role of SOX2 mutations in human hippocampal malformations and epilepsy.
Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Sisodiya SM, et al. Among authors: van heyningen v. Epilepsia. 2006 Mar;47(3):534-42. doi: 10.1111/j.1528-1167.2006.00464.x. Epilepsia. 2006. PMID: 16529618 Free article.
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: van heyningen v. Ann Neurol. 2003 May;53(5):658-63. doi: 10.1002/ana.10576. Ann Neurol. 2003. PMID: 12731001
Quantitative MR image analysis in subjects with defects in the PAX6 gene.
Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Free SL, et al. Among authors: van heyningen v. Neuroimage. 2003 Dec;20(4):2281-90. doi: 10.1016/j.neuroimage.2003.07.001. Neuroimage. 2003. PMID: 14683729
SOX2 anophthalmia syndrome.
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. Ragge NK, et al. Among authors: van heyningen v. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. Am J Med Genet A. 2005. PMID: 15812812
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: van heyningen v. Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62. Neurology. 2004. PMID: 15079031
PAX6 in sensory development.
van Heyningen V, Williamson KA. van Heyningen V, et al. Hum Mol Genet. 2002 May 15;11(10):1161-7. doi: 10.1093/hmg/11.10.1161. Hum Mol Genet. 2002. PMID: 12015275 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: van heyningen v. 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.
237 results