An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless- Related Homeodomain Transcription Factor ARX

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

(2016) Margot R.F. Reijnders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelMED12mutation: Evidence for a fourth phenotype

(2016) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental interneuron subtype deficits after targeted loss of Arx

(2016) Eric D. Marsh et al.   BMC NEUROSCIENCE

The molecular and phenotypic spectrum ofIQSEC2-related epilepsy

(2016) Ayelet Zerem et al.   EPILEPSIA

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature

(2016) Pierre Sinajon et al.   HUMAN GENETICS

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

(2016) CAROLINE LACOSTE et al.   JOURNAL OF GENETICS

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

(2016) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Unraveling the pathogenesis ofARXpolyalanine tract variants using a clinical and molecular interfacing approach

(2015) Isabel Marques et al.   Molecular Genetics & Genomic Medicine

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

(2015) Anna Ka-Yee Kwong et al.   PLoS One

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

(2013) Kristie Lee et al.   HUMAN MOLECULAR GENETICS

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of theARXgene: rethinking theARXphenotype in females

(2012) E Bettella et al.   CLINICAL GENETICS

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

(2011) Yaman Z. Ekşioğlu et al.   EPILEPSIA

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity

(2009) Gaia Colasante et al.   DEVELOPMENTAL BIOLOGY

Expansion of the ARX spectrum

(2008) Robert Wallerstein et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis

(2008) G. Friocourt et al.   JOURNAL OF NEUROSCIENCE