D J Wilkin

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    D J Wilkin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 63:711-6. 1998
  2. ncbi request reprint Bone dysplasias in man: molecular insights
    C A Francomano
    Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Genet Dev 6:301-8. 1996
  3. ncbi request reprint Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging
    Z Vajo
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr MSC 1852, Bldg 10, Room 10C101, Bethesda, Maryland 20892 1852, USA
    Mamm Genome 10:1000-4. 1999
  4. ncbi request reprint Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons
    D J Wilkin
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, The National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet 94:141-8. 2000

Collaborators

Detail Information

Publications4

  1. pmc Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    D J Wilkin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 63:711-6. 1998
    ....
  2. ncbi request reprint Bone dysplasias in man: molecular insights
    C A Francomano
    Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Genet Dev 6:301-8. 1996
    ..The recognition of these phenomena has initiated the analysis of the relationship between disease phenotype and gene...
  3. ncbi request reprint Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging
    Z Vajo
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr MSC 1852, Bldg 10, Room 10C101, Bethesda, Maryland 20892 1852, USA
    Mamm Genome 10:1000-4. 1999
    ..The protein similarities and the conservation of function of the CLK-1/clk-1/COQ7 gene products suggest a potential link between the production of ubiquinone and aging...
  4. ncbi request reprint Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons
    D J Wilkin
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, The National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet 94:141-8. 2000
    ....