Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 21-30 of 139 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2015Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneIshibashi, M.; Manning, E.; Shoubridge, C.; Krecsmarik, M.; Hawkins, T.; Giacomotto, J.; Zhao, T.; Mueller, T.; Bader, P.; Cheung, S.; Stankiewicz, P.; Bain, N.; Hackett, A.; Reddy, C.; Mechaly, A.; Peers, B.; Wilson, S.; Lenhard, B.; Bally-Cuif, L.; Gecz, J.; et al.
2000Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndromeVillard, L.; Fontes, M.; Ades, L.; Gecz, J.
2016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismHughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
2022The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental DisordersJolly, L.A.; Kumar, R.; Penzes, P.; Piper, M.; Gecz, J.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2023The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Brazane, M.; Dimitrova, D.G.; Pigeon, J.; Paolantoni, C.; Ye, T.; Marchand, V.; Da Silva, B.; Schaefer, E.; Angelova, M.T.; Stark, Z.; Delatycki, M.; Dudding-Byth, T.; Gecz, J.; Plaçais, P.-Y.; Teysset, L.; Préat, T.; Piton, A.; Hassan, B.A.; Roignant, J.-Y.; Motorin, Y.; et al.
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.
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2004Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neuronsColombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.