Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)

This publication has 11 references indexed in Scilit:

• Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice.
  Human Molecular Genetics, 2002
• ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein
  Journal of Medical Genetics, 2000
• Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association
  Human Molecular Genetics, 2000
• A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy
  Annals of Neurology, 2000
• Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
  Proceedings of the National Academy of Sciences, 1999
• Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
  Human Molecular Genetics, 1998
• Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase
  Genomics, 1997
• Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
  Cell, 1995
• Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)
  American Journal of Medical Genetics, 1995