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American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, et al.Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.Nature Genetics|September 2, 1999
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardationA Carrié, L Jun, T Bienvenu, et al.Journal of Medical Genetics|September 20, 2005
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGHD Lugtenberg, A P M de Brouwer, T Kleefstra, et al.Journal of Neurology|July 23, 2022
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective studyT Bogdan, T Wirth, A Iosif, et al.Molecular Psychiatry|February 4, 2015
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesH Hu, S A Haas, J Chelly, et al.Pageof 14