William E Tidyman

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA
    Curr Opin Genet Dev 19:230-6. 2009
  2. ncbi Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
    William E Tidyman
    Department of Anatomy, University of California San Francisco, CA 94115, USA
    Expert Rev Mol Med 10:e37. 2008
  3. ncbi Mutational and functional analysis in human Ras/MAP kinase genetic syndromes
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA
    Methods Mol Biol 661:433-47. 2010
  4. ncbi Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations
    Katherine A Rauen
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94115, USA
    Am J Med Genet A 152:807-14. 2010
  5. ncbi Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
    Science 311:1287-90. 2006
  6. ncbi Peripheral muscle weakness in RASopathies
    David A Stevenson
    University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
    Muscle Nerve 46:394-9. 2012
  7. ncbi HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
    Anne L Estep
    Comprehensive Cancer Center, Cancer Research Institute, University of California-San Francisco, 2340 Sutter Street, San Francisco, CA 94115, USA
    Am J Med Genet A 140:8-16. 2006

Collaborators

Detail Information

Publications7

  1. ncbi The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA
    Curr Opin Genet Dev 19:230-6. 2009
    ..Here we review the clinical and underlying molecular basis for each of these syndromes...
  2. ncbi Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
    William E Tidyman
    Department of Anatomy, University of California San Francisco, CA 94115, USA
    Expert Rev Mol Med 10:e37. 2008
    ..Here we review the clinical consequences of the known molecular lesions associated with Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome, and explore possible therapeutic modalities for treatment...
  3. ncbi Mutational and functional analysis in human Ras/MAP kinase genetic syndromes
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA
    Methods Mol Biol 661:433-47. 2010
    ....
  4. ncbi Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations
    Katherine A Rauen
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94115, USA
    Am J Med Genet A 152:807-14. 2010
    ..This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway...
  5. ncbi Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
    Science 311:1287-90. 2006
    ..Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome...
  6. ncbi Peripheral muscle weakness in RASopathies
    David A Stevenson
    University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
    Muscle Nerve 46:394-9. 2012
    ..Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies...
  7. ncbi HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
    Anne L Estep
    Comprehensive Cancer Center, Cancer Research Institute, University of California-San Francisco, 2340 Sutter Street, San Francisco, CA 94115, USA
    Am J Med Genet A 140:8-16. 2006
    ..No mutations were found which support a distinct genetic etiology between CS and CFC syndromes...