The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

This publication has 56 references indexed in Scilit:

• Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors
  Human Molecular Genetics, 2009
• Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development
  Human Molecular Genetics, 2008
• Biochemical and Functional Characterization of Germ Line KRAS Mutations
  Molecular and Cellular Biology, 2007
• NRAS mutation causes a human autoimmune lymphoproliferative syndrome
  Proceedings of the National Academy of Sciences, 2007
• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
  Nature Genetics, 2006
• Germline gain-of-function mutations in SOS1 cause Noonan syndrome
  Nature Genetics, 2006
• The cardiofaciocutaneous syndrome
  Journal of Medical Genetics, 2006
• The natural history of Noonan syndrome: a long-term follow-up study
  Archives of Disease in Childhood, 2006
• Germline KRAS mutations cause Noonan syndrome
  Nature Genetics, 2006
• Germline mutations in HRAS proto-oncogene cause Costello syndrome
  Nature Genetics, 2005