SEARCH

SEARCH BY CITATION

References

  • 1
    Lonardo, F., G. Parenti, D. V. Luquetti, I. Annunziata, M. Della Monica, L. Perone, M. De Gregori, O. Zuffardi, N. Brunetti-Pierri, G. Andria, and G. Scarano. 2007. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur. J. Med. Genet. 50:301308.
  • 2
    James, R. S., B. Coppin, P. Dalton, N. R. Dennis, C. Mitchell, A. J. Sharp, D. H. Skuse, N. S. Thomas, and P. A. Jacobs. 1998. A study of females with deletions of the short arm of the X chromosome. Hum. Genet. 102:507516.
  • 3
    Jorge, A. A., M. F. Funari, M. Y. Nishi, and B. B. Mendonca. 2010. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Pediatr. Endocrinol. Rev. 8:7985.
  • 4
    Helena Mangs, A., and B. J. Morris. 2007. The human pseudoautosomal region (PAR): origin, function and future. Curr. Genomics 8:129136.
  • 5
    Mohandas, T. K., R. M. Speed, M. B. Passage, P. H. Yen, A. C. Chandley, and L. J. Shapiro. 1992. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am. J. Hum. Genet. 51:526533.
  • 6
    Johnson, N. C. 2011. XG: the forgotten blood group system. Immunohematology 27:6871.
  • 7
    Mu, J., and P. J. Roach. 1998. Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism. J. Biol. Chem. 273:3485034856.
  • 8
    Meroni, G., B. Franco, N. Archidiacono, S. Messali, G. Andolfi, M. Rocchi, and A. Ballabio. 1996. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum. Mol. Genet. 5:423431.
  • 9
    Franco, B., G. Meroni, G. Parenti, J. Levilliers, L. Bernard, M. Gebbia, L. Cox, P. Maroteaux, L. Sheffield, G. A. Rappold, G. Andria, C. Petit, and A. Ballabio. 1995. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81:1525.