Characterization and Physical Mapping in Human and Mouse of a Novel RING Finger Gene in Xp22

This publication has 32 references indexed in Scilit:

• The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3
  Human Molecular Genetics, 1997
• Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
  Journal of Medical Genetics, 1996
• Ordered Deletions Using Exonuclease III
  Published by Springer Nature ,1995
• Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
  Nature Genetics, 1995
• PBDX is the XG blood group gene
  Nature Genetics, 1994
• Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1
  Journal of the American Academy of Dermatology, 1994
• Nance-Horan Syndrome: Linkage Analysis in a Family from The Netherlands
  Genomics, 1994
• Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents.
  Proceedings of the National Academy of Sciences, 1990
• Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome
  American Journal of Medical Genetics, 1989
• Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.
  Proceedings of the National Academy of Sciences, 1987