The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
Top Cited Papers
- 30 June 2009
- journal article
- review article
- Published by Elsevier BV in Current Opinion in Genetics & Development
- Vol. 19 (3), 230-236
- https://doi.org/10.1016/j.gde.2009.04.001
Abstract
No abstract availableKeywords
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 inhibitorsHuman Molecular Genetics, 2009
- Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila developmentHuman Molecular Genetics, 2008
- Biochemical and Functional Characterization of Germ Line KRAS MutationsMolecular and Cellular Biology, 2007
- NRAS mutation causes a human autoimmune lymphoproliferative syndromeProceedings of the National Academy of Sciences of the United States of America, 2007
- Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeNature Genetics, 2006
- Germline gain-of-function mutations in SOS1 cause Noonan syndromeNature Genetics, 2006
- The cardiofaciocutaneous syndromeJournal of Medical Genetics, 2006
- The natural history of Noonan syndrome: a long-term follow-up studyArchives of Disease in Childhood, 2006
- Germline KRAS mutations cause Noonan syndromeNature Genetics, 2006
- Germline mutations in HRAS proto-oncogene cause Costello syndromeNature Genetics, 2005