Disease: Partington X-linked mental retardation syndrome
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo
- A novel mutation of the ARX gene in a male with nonsyndromic mental retardation
- ARX mutations and mental retardation of unknown etiology: three new cases in Spain
- ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
- ARX--one gene--many phenotypes
- Autistic traits and mental health in women with the fragile-X premutation: maternal status versus genetic risk
- CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
- Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
- Increased Proteolytic Activity of <em>Serratia marcescens</em> Clinical Isolate HU1848 Is Associated with Higher <em>eepR</em> Expression
- Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype
- Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand
- Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
- Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation
- Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
- X-linked mental deficiency