1. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

    The American Journal of Human Genetics 89(5):595 (2011) PMID 22019272 PMCID PMC3213388

    Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common developmental defect of the skull that occurs in 1 in 2500 individuals and resu...
  2. Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

    The American Journal of Human Genetics 89(5):595 (2011)

    Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common developmental defect of the skull that occurs in 1 in 2500 individual...
  3. Thanatophoric dysplasia: role of 3D sonography.

    American Journal of Roentgenology 194(6):W539; author reply W544 (2010) PMID 20489076

  4. Thanatophoric dysplasia: role of 3D sonography.

    American Journal of Roentgenology 194(6):W539; author reply W544 (2010) PMID 20489076

  5. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

    Nature Medicine 13(11):1363 (2007) PMID 17952091

    Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core protein. Proteoglycans have critical roles in chondrogenesis and skeletal development. The glycosaminoglycan chains found in cartilage proteoglycan...
  6. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

    Nature Medicine 13(11):1363 (2007) PMID 17952091

    Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core protein. Proteoglycans have critical roles in chondrogenesis and skeletal development. The glycosaminoglycan chains found in cartilage proteoglycan...
  7. Prenatal diagnosis of boomerang dysplasia.

    American Journal of Medical Genetics Part A 122A(2):148 (2003) PMID 12955767

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a charac...
  8. Prenatal diagnosis of boomerang dysplasia.

    American Journal of Medical Genetics Part A 122A(2):148 (2003) PMID 12955767

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a charac...