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PreviewIssue DateTitleAuthor(s)
2013RAB40AL loss-of-function mutation does not cause X-linked intellectual disabilityKalscheuer, V.; Iqbal, Z.; Hu, H.; Haas, S.; Shaw, M.; Lebrun, N.; Seemanova, E.; Voesenek, K.; Hobson, L.; Ropers, H.H.; Townshend, S.; Raynaud, M.; van Bokhoven, H.; Riazuddin, S.; Chelly, J.; Gecz, J.
2009Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13Shoubridge, C.; Tan, M.; Fullston, T.; McGillivray, G.; Mancini, G.; Gecz, J.; Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
2014UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disordersLaumonnier, F.; Nguyen, L.; Jolly, L.; Raynaud, M.; Gecz, J.
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.
2010A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Hattersley, K.; Laurie, K.; Liebelt, J.; Gecz, J.; Durkin, S.; Craig, J.; Burden, K.
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyBurdon, K.; Durkin, S.; Burke, M.; Edwards, M.; Pater, J.; Straga, T.; Gecz, J.; Liebelt, J.; Craig, J.
2010Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disabilityShoubridge, C.; Walikonis, R.; Gecz, J.; Harvey, R.
2010A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CJensen, L.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.; Chelly, J.; de Brouwer, A.; Hamel, B.; Gecz, J.; Ropers, H.; Kuss, A.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.
2002A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutationShaw, M.; Chiurazzi, P.; Romain, D.; Neri, G.; Gecz, J.