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American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.Nature Genetics|March 13, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyPetter Strømme, Marie E Mangelsdorf, Marie A Shaw, et al.Genome Research|April 4, 2008
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters, Hilde Van Esch, Michael J Friez, et al.American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.Human Molecular Genetics|April 25, 2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationThierry Bienvenu, Karine Poirier, Gaelle Friocourt, et al.European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.Journal of Medical Genetics|April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.Pageof 17