Associated Papers
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
Benmakhlouf Y et al.
Bmc Research Notes, 2021
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Marques I et al.
Molecular Genetics & Genomic Medicine, 2015
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
Curie A et al.
Orphanet Journal of Rare Diseases, 2014
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
Oegema R et al.
American Journal of Medical Genetics. Part A, 2012
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.
Bachetti T et al.
Journal of Molecular Medicine (berlin, Germany), 2011
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
Ekşioğlu YZ et al.
Epilepsia, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée M et al.
American Journal of Medical Genetics. Part A, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.
Shoubridge C et al.
Pathogenetics, 2010
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.
Reish O et al.
American Journal of Medical Genetics. Part A, 2009
Identification of Arx transcriptional targets in the developing basal forebrain.
Fulp CT et al.
Human Molecular Genetics, 2008
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Poirier K et al.
Epilepsy Research, 2008
Expansion of the ARX spectrum.
Wallerstein R et al.
Clinical Neurology and Neurosurgery, 2008
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
Shoubridge C et al.
Genomics, 2007
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C et al.
Bmc Medical Genetics, 2007
Mutation screening of the ARX gene in patients with autism.
Chaste P et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007
ARX: a gene for all seasons.
Gécz J et al.
Current Opinion in Genetics & Development, 2006
The ARX mutations: a frequent cause of X-linked mental retardation.
Nawara M et al.
American Journal of Medical Genetics. Part A, 2006
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Poirier K et al.
Neurogenetics, 2006
Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
de Souza Gestinari-Duarte R et al.
Journal of Human Genetics, 2006
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Bhat SS et al.
American Journal of Medical Genetics. Part A, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
The phenotypic spectrum of ARX mutations.
Suri M
Developmental Medicine and Child Neurology, 2005
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS et al.
American Journal of Human Genetics, 2004
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Partington MW et al.
Clinical Genetics, 2004
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Current Opinion in Pediatrics, 2003
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.
Strømme P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2003
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
Turner G et al.
American Journal of Medical Genetics, 2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
Strømme P et al.
Brain & Development, 2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Bienvenu T et al.
Human Molecular Genetics, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P et al.
Nature Genetics, 2002
ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
Gestinari-Duarte Rde S et al.
European Journal of Medical Genetics, 0
[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].
Romero-Rubio MT et al.
Revista De Neurologia, 0
Intellectual Disability in Morocco: A Pilot Study.
Benmakhlouf Y et al.
Innovations in Clinical Neuroscience, 0