PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.
PMID 27781032 2016 Genetic Basis of Brain Malformations.
PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.
PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.
PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
rs1556055108 in
ARX gene and
Muscle hypotonia
PMID 19439424 2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
PMID 12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
PMID 14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
PMID 10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
PMID 11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
PMID 3177452 1988 X-linked mental retardation with dystonic movements of the hands.
PMID 20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.
PMID 25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.
PMID 27781032 2016 Genetic Basis of Brain Malformations.
PMID 17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
PMID 23246292 2013 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
PMID 28150386 2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
PMID 22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
PMID 1605226 1992 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.