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PreviewIssue DateTitleAuthor(s)
2007The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 geneSchwartz, C.; Tarpey, P.; Lubs, H.; Verloes, A.; May, M.; Risheg, H.; Friez, M.; Futreal, P.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensin, R.; Joseph, S.; Jones, J.; Gecz, J.; Stratton, M.; Raymond, F.; Stevenson, R.
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionFroyen, G.; Bauters, M.; Boyle, J.; Van Esch, H.; van Bokhoven, H.; Ropers, H.; Moraine, C.; Chelly, J.; Fryns, J.; Marynen, P.; Gecz, J.; Turner, G.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.
2007Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardationChen, W.; Jensen, L.; Gecz, J.; Fryns, J.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.; Kuss, A.
2007Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressorMcKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
2007Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHKousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; van Bokhoven, H.; de Brouwer, A.; Van Esch, H.; Froyen, G.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.
2007Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityVoss, A.; Gamble, R.; Collin, C.; Shoubridge, C.; Corbett, M.; Gecz, J.; Thomas, T.

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