Genomes and Genes
Marianne L Seto
Affiliation: University of Washington
- Isolated sagittal and coronal craniosynostosis associated with TWIST box mutationsMarianne 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...
- Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutationsMichael 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...
- 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...
- Syndromic craniosynostosis: from history to hydrogen bondsMachael 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...
- Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278FNan E Hatch
Department of Physiology and Biophysics, University of Washington, Seattle, Washington 98195, USA
J Biol Chem 281:27292-305. 2006....
- Progressive postnatal craniosynostosis and increased intracranial pressureJohn 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...
- In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndromeChootima 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...