Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Antzeko izenburuak

• RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
  nork: Carmona-Mora, Paulina, et al.
  Argitaratua: (2012)
• Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior
  nork: Carmona-Mora, Paulina, et al.
  Argitaratua: (2010)
• Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes
  nork: Carmona-Mora, P, et al.
  Argitaratua: (2009)
• Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome
  nork: Vieira, Gustavo H, et al.
  Argitaratua: (2012)
• RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
  nork: Falco, Mariateresa, et al.
  Argitaratua: (2017)