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Results 21-28 of 28 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutationTurner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, J.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
2016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disabilityKumar, R.; Ha, T.; Pham, D.; Shaw, M.; Mangelsdorf, M.; Friend, K.L.; Hobson, L.; Turner, G.; Boyle, J.; Field, M.; Hackett, A.; Corbett, M.; Gecz, J.
1999Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardationGecz, J.; Barnett, S.; Liu, J.; Hollway, G.; Donnelly, A.; Eyre, H.; Eshkevari, H.; Baltazar, R.; Grunn, A.; Nagaraja, R.; Gilliam, C.; Peltonen, L.; Sutherland, G.; Baron, M.; Mulley, J.
1997Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activatorsGecz, J.; Bielby, S.; Sutherland, G.; Mulley, J.
2019A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayMucha, B.E.; Banka, S.; Ajeawung, N.F.; Molidperee, S.; Chen, G.G.; Koenig, M.K.; Adejumo, R.B.; Till, M.; Harbord, M.; Perrier, R.; Lemyre, E.; Boucher, R.M.; Skotko, B.G.; Waxler, J.L.; Thomas, M.A.; Hodge, J.C.; Gecz, J.; Nicholl, J.; McGregor, L.; Linden, T.; et al.