Noonan syndrome and clinically related disorders
Top Cited Papers
- 28 February 2011
- journal article
- review article
- Published by Elsevier BV in Best Practice & Research Clinical Endocrinology & Metabolism
- Vol. 25 (1), 161-179
- https://doi.org/10.1016/j.beem.2010.09.002
Abstract
No abstract availableKeywords
This publication has 111 references indexed in Scilit:
- Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like PhenotypeAmerican Journal of Human Genetics, 2010
- Phosphatase-Dependent and -Independent Functions of Shp2 in Neural Crest Cells Underlie LEOPARD Syndrome PathogenesisDevelopmental Cell, 2010
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationCurrent Opinion in Genetics & Development, 2009
- SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesionsEuropean Journal of Human Genetics, 2009
- Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlationsEuropean Journal of Human Genetics, 2009
- Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeEuropean Journal of Human Genetics, 2008
- Raf kinases: Function, regulation and role in human cancerBiochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2007
- Germline gain-of-function mutations in SOS1 cause Noonan syndromeNature Genetics, 2006
- Germline KRAS mutations cause Noonan syndromeNature Genetics, 2006
- Germline mutations in HRAS proto-oncogene cause Costello syndromeNature Genetics, 2005