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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2013PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox exampleTan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2013Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactionsMattiske, T.; Tan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2013A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXPoeta, L.; Fusco, F.; Drongitis, D.; Shoubridge, C.; Manganelli, G.; Filosa, S.; Paciolla, M.; Courtney, M.; Collombat, P.; Lioi, M.; Gecz, J.; Ursini, M.; Miano, M.
2012Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Shoubridge, C.; Gardner, A.; Schwartz, C.; Hackett, A.; Field, M.; Gecz, J.
2012ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repressionShoubridge, C.; Tan, M.; Seiboth, G.; Gecz, J.
2010Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismLaumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J.; Hamel, B.; Chelly, J.; Ropers, H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
2010Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionShoubridge, C.; Tan, M.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.; Kleefstra, T.; Gecz, J.