1. Adelaide Research & Scholarship

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Results 11-20 of 60 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2012A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disabilityHuang, L.; Poke, G.; Gecz, J.; Gibson, K.
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.
2012BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patientsTlili, A.; Hoischen, A.; Ripoll, C.; Benabou, E.; Badel, A.; Ronan, A.; Touraine, R.; Grattau, Y.; Stora, S.; Van Bon, B.; de Vries, B.; Menten, B.; Bockaert, N.; Gecz, J.; Antonarakis, S.; Campion, D.; Potier, M.; Blehaut, H.; Delabar, J.; Janel, N.
2012Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Barnett, C.; Mencel, J.; Gecz, J.; Kirwin, S.; Waters, W.; Vinette, K.; Uppill, M.; Nicholl, J.
2011Inherited Balanced Translocation t(9;17)(q33.2;q25.3) Concomitant With a 16p13.1 Duplication in a Patient With SchizophreniaFullston, T.; Gabb, B.; Callen, D.; Ullmann, R.; Woollatt, E.; Bain, S.; Ropers, H.; Cooper, M.; Chandler, D.; Carter, K.; Jablensky, A.; Kalaydjieva, L.; Gecz, J.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; 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.

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