Marianne L Seto

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
    Marianne L Seto
    Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195 6320, USA
    Am J Med Genet A 143:678-86. 2007
  2. ncbi request reprint Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations
    Michael L Cunningham
    Children s Craniofacial Center, Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Birth Defects Res A Clin Mol Teratol 76:78-85. 2006
  3. doi request reprint Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
    Anne V Hing
    Department of Pediatrics, University of Washington, Seattle, Washington 98195 6320, USA
    Am J Med Genet A 149:1024-32. 2009
  4. ncbi request reprint Syndromic craniosynostosis: from history to hydrogen bonds
    Machael L Cunningham
    Division of Craniofacial Medicine, University of Washington Department of Pediatrics and Children s Craniofacial Center, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Orthod Craniofac Res 10:67-81. 2007
  5. ncbi request reprint Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F
    Nan E Hatch
    Department of Physiology and Biophysics, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 281:27292-305. 2006
  6. ncbi request reprint Progressive postnatal craniosynostosis and increased intracranial pressure
    John P Connolly
    Division of Plastic Surgery, Department of Surgery, and the Children s Hospital and Regional Medical Center Craniofacial Center, University of Washington School of Medicine, Seattle, 98105 0371, USA
    Plast Reconstr Surg 113:1313-23. 2004
  7. ncbi request reprint In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome
    Chootima Ratisoontorn
    Department of Oral Biology, University of Washington, Seattle, 98195, USA
    Bone 36:627-34. 2005

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
    Marianne L Seto
    Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195 6320, USA
    Am J Med Genet A 143:678-86. 2007
    ..We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include TWIST1 mutational analysis...
  2. ncbi request reprint Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations
    Michael L Cunningham
    Children s Craniofacial Center, Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Birth Defects Res A Clin Mol Teratol 76:78-85. 2006
    ..Despite the characterization of 67 unique mutations in 97 individual cases, and the availability of animal models, no obvious genotype-phenotype correlation has emerged...
  3. doi request reprint Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
    Anne V Hing
    Department of Pediatrics, University of Washington, Seattle, Washington 98195 6320, USA
    Am J Med Genet A 149:1024-32. 2009
    ..In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings...
  4. ncbi request reprint Syndromic craniosynostosis: from history to hydrogen bonds
    Machael L Cunningham
    Division of Craniofacial Medicine, University of Washington Department of Pediatrics and Children s Craniofacial Center, Children s Hospital and Regional Medical Center, Seattle, WA, USA
    Orthod Craniofac Res 10:67-81. 2007
    ..In this review we will discuss the historical descriptions, current phenotypes and molecular causes of the more common forms of syndromic craniosynostosis...
  5. ncbi request reprint Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F
    Nan E Hatch
    Department of Physiology and Biophysics, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 281:27292-305. 2006
    ....
  6. ncbi request reprint Progressive postnatal craniosynostosis and increased intracranial pressure
    John P Connolly
    Division of Plastic Surgery, Department of Surgery, and the Children s Hospital and Regional Medical Center Craniofacial Center, University of Washington School of Medicine, Seattle, 98105 0371, USA
    Plast Reconstr Surg 113:1313-23. 2004
    ..It is important for clinicians to be aware of this group of patients, because any delay in diagnosis and treatment can result in severe consequences for the patients...
  7. ncbi request reprint In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome
    Chootima Ratisoontorn
    Department of Oral Biology, University of Washington, Seattle, 98195, USA
    Bone 36:627-34. 2005
    ..It is plausible that mutations in different functional domains of TWIST1 have divergent effects on these later stages of differentiation...