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PreviewIssue DateTitleAuthor(s)
2015Cerebral palsy: causes, pathways, and the role of genetic variantsMacLennan, A.; Thompson, S.; 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.
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
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.
2012Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delayLynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; 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.
2009FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureBensaid, M.; Melko, M.; Bechara, E.; Davidovic, L.; Berretta, A.; Catania, M.; Gecz, J.; Lalli, E.; Bardoni, B.
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.
2002Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXStromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
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.