SECOND HUMAN PSEUDOAUTOSOMAL REGION: BIOLOGY, GENES AND IMPLICATIONS FOR THE PATHOGENESIS OF RETT SYNDROME

Scientific Publications

• 2001 HUMAN MUTATION

  DHPLC analysis of the MECP2 gene in Italian Rett patients

• 2001 JOURNAL OF MOLECULAR MEDICINE-JMM

  Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

• 2000 HUMAN MOLECULAR GENETICS

  Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region

• 2003 GENOME RESEARCH

  Complex events in the evolution of the human pseudoautosomal region 2 (PAR2)

• 2001 BRAIN & DEVELOPMENT

  MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region