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PreviewIssue DateTitleAuthor(s)
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2009Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX GeneDemos, M.; Fullston, T.; Partington, M.; Gecz, J.; Gibson, W.
2008Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesJaekle Santos, L.; Xing, C.; Barnes, R.; Ades, L.; Megarbane, A.; Vidal, C.; Xuereb, A.; Tarpey, P.; Smith, R.; Khazab, M.; Shoubridge, C.; Partington, M.; Futreal, P.; Stratton, M.; Gecz, J.; Zinn, A.
2004Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
2004The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsTurner, G.; Lower, K.; White, S.; Delatycki, M.; Lampe, A.; Wright, M.; Clayton-Smith, J.; Kerr, B.; Schelley, S.; Hoyme, H.; de Vries, B.; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.
20041024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome familyLower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
2003Nonsyndromic x-linked mental retardation: where are the missing mutations?Ropers, H.; Hoeltzenbein, M.; Kalscheuer, V.; Yntema, H.; Hamel, B.; Fryns, J.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.
2009Börjeson-Forssman-Lehmann SyndromeCrawford, J.; Partington, M.; Corbett, M.; Lower, K.; Gecz, J.; Beales, P.; Farooqi, I.; O'Rahilly, S.
2006ARX: a gene for all seasonsGecz, J.; Cloosterman, D.; Partington, M.