Associated Papers
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.
Aristidou C et al.
Genes, 2025
Male-female phenotype correlation and dissociation related to mutations in the ARX gene.
Li CL
Journal of Medical Genetics, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
Arvio M et al.
Case Reports in Genetics, 2023
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Trost B et al.
Nature, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C et al.
American Journal of Medical Genetics. Part A, 2019
Infantile-onset hand dystonia with intellectual disability: Clues to ARX mutations.
Breen DP et al.
Neurology, 2018
Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.
Jackson MR et al.
Neurobiology of Disease, 2017
Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Mattiske T et al.
Human Molecular Genetics, 2016
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Marques I et al.
Molecular Genetics & Genomic Medicine, 2015
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.
Lee K et al.
Human Molecular Genetics, 2014
Development and validation of a multiplex-PCR assay for X-linked intellectual disability.
Jorge P et al.
Bmc Medical Genetics, 2013
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
Shoubridge C et al.
European Journal of Human Genetics : Ejhg, 2012
Novel mutation in ARX associated with early hand preference and a mild phenotype.
Kuwaik GA et al.
Journal of Developmental and Behavioral Pediatrics : Jdbp, 2012
Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
Fullston T et al.
Clinical Genetics, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 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
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
Demos MK et al.
American Journal of Medical Genetics. Part A, 2009
Screening of the ARX gene in 682 retarded males.
Grønskov K et al.
European Journal of Human Genetics : Ejhg, 2004
Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Kato M et al.
Neurology, 2003
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Grønskov K et al.
European Journal of Medical Genetics, 0