PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
By M. Tartaglia, K. Kalidas, A. Shaw, Xiaoling Song, D. Musat, I. van der Burgt, H. Brunner, D. Bertola, A. Crosby, A. Ion and 4 more. American Journal of Human Genetics, 2002
772 citations recorded by the source corpus.
Subfields: Immunology, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/9c58b133eac9d3cd770c510bcb4110936485185d
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Molecular Biology
Citations in the corpus
- HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). (2011, background): “However, Noonan syndrome with either HCM or RCM is seldom PTPN11 positive.(255) Other Noonan syndrome-susceptibility genes include SOS1, KRAS, RAF1, SHOC2, and NRAS.”