J M Opitz

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. ncbi request reprint The syndromes of Sotos and Weaver: reports and review
    J M Opitz
    Department of Pediatrics, University of Utah, Salt Lake City, USA
    Am J Med Genet 79:294-304. 1998
  2. ncbi request reprint RSH (so-called Smith-Lemli-Opitz) syndrome
    J M Opitz
    2100 Primary Children s Medical Center, University of Utah, Salt Lake City 84112 1100, USA
    Curr Opin Pediatr 11:353-62. 1999
  3. ncbi request reprint Defects of blastogenesis
    John M Opitz
    University of Utah, 100 N Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA
    Am J Med Genet 115:269-86. 2002
  4. ncbi request reprint Osseous fragility in Marshall-Smith syndrome
    Mohammad Diab
    Department of Orthopaedics, Children s Hospital and Regional Medical Center, N E, Seattle, Washington 98105, USA
    Am J Med Genet A 119:218-22. 2003
  5. ncbi request reprint Comments on biological asymmetry
    J M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet 101:359-69. 2001
  6. pmc Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain
    K Gaudenz
    Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am J Hum Genet 63:703-10. 1998

Collaborators

  • Enid Gilbert-Barness
  • Mohammad Diab
  • K Gaudenz
  • Michael Raff
  • Daniel F Gunther
  • A Ballabio
  • B Franco
  • E Montini
  • D L Gasser
  • E Roessler
  • J Horst
  • B Wittwer
  • N Quaderi
  • G Feldman
  • M Muenke

Detail Information

Publications6

  1. ncbi request reprint The syndromes of Sotos and Weaver: reports and review
    J M Opitz
    Department of Pediatrics, University of Utah, Salt Lake City, USA
    Am J Med Genet 79:294-304. 1998
    ..Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes...
  2. ncbi request reprint RSH (so-called Smith-Lemli-Opitz) syndrome
    J M Opitz
    2100 Primary Children s Medical Center, University of Utah, Salt Lake City 84112 1100, USA
    Curr Opin Pediatr 11:353-62. 1999
    ..Many other defects in this pathway remain to be discovered...
  3. ncbi request reprint Defects of blastogenesis
    John M Opitz
    University of Utah, 100 N Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA
    Am J Med Genet 115:269-86. 2002
    ..If cause is unknown, the presumption of pleiotropy is less certain, and the fetus/infant may be said to have an "association" with low empiric recurrence risk...
  4. ncbi request reprint Osseous fragility in Marshall-Smith syndrome
    Mohammad Diab
    Department of Orthopaedics, Children s Hospital and Regional Medical Center, N E, Seattle, Washington 98105, USA
    Am J Med Genet A 119:218-22. 2003
    ..The purpose of this report is to draw attention to Marshall-Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility...
  5. ncbi request reprint Comments on biological asymmetry
    J M Opitz
    Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet 101:359-69. 2001
    ..In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry...
  6. pmc Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain
    K Gaudenz
    Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am J Hum Genet 63:703-10. 1998
    ..These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis...