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Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Sisodiya SM, et al. Among authors: free sl. J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237123 Free PMC article. Clinical Trial.
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: free sl. 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: free sl. 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: free sl. Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62. Neurology. 2004. PMID: 15079031
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Among authors: free sl. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.
Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM. Bamiou DE, et al. Among authors: free sl. Arch Pediatr Adolesc Med. 2007 May;161(5):463-9. doi: 10.1001/archpedi.161.5.463. Arch Pediatr Adolesc Med. 2007. PMID: 17485622
67 results