Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

This publication has 19 references indexed in Scilit:

• Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
  European Journal of Human Genetics, 2004
• Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in ARX
  Clinical Genetics, 2004
• Screening of the ARX gene in 682 retarded males
  European Journal of Human Genetics, 2004
• ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
  Clinical Genetics, 2004
• Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
  Human Mutation, 2004
• Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
  Journal of Neurology, Neurosurgery & Psychiatry, 2003
• Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
  Nature Genetics, 2002
• Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome
  American Journal of Medical Genetics, 2002
• The phenotypic spectrum of ARX mutations
  Developmental Medicine and Child Neurology, 1999
• Recurrence risks in mental retardation.
  Journal of Medical Genetics, 1998