Now showing items 1-2 of 2

    • Clinical spectrum of fibroblast growth factor receptor mutations 

      Passos-Bueno, M. R.; Wilcox, W. R.; Jabs, E. W.; Sertie, A. L.; Alonso, Luis Garcia [UNIFESP]; Kitoh, H. (Wiley-Blackwell, 1999-01-01)
      During the last few years, it has been demonstrated that some syndromic craniosynostosis and short limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one ...

    • Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly 

      Jehee, F. S.; Johnson, D.; Alonso, L. G.; Cavalcanti, D. P.; Moreira, E. D.; Alberto, F. L.; Kok, F.; Kim, C.; Wall, S. A.; Jabs, E. W.; Boyadjiev, S. A.; Wilkie, AOM; Passos-Bueno, M. R. (Blackwell Munksgaard, 2005-06-01)
      Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict ...