AN EXCEPTIONAL CHROMOSOME

Scientific Publications

• 2002 EUROPEAN JOURNAL OF HUMAN GENETICS

  Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

• 2002 AMERICAN JOURNAL OF MEDICAL GENETICS

  Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?

• 2001 GENE

  IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system

• 2000 AMERICAN JOURNAL OF HUMAN GENETICS

  A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation