PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +11

Crystal Structure of the Tyrosine Phosphatase SHP-2

Peter Hof, Scott Pluskey, Sirano Dhe‐Paganon et al. · Cell · 1998 · 1K citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 797 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 422 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

Binbin Chen, Roderick T. Bronson, Lori D. Klaman et al. · Nature Genetics · 2000 · 295 citations

Medicine, Cardiology, Molecular Biology +14