Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous 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

A clinical study of Noonan syndrome.

Mike Sharland, Michael Burch, W M McKenna et al. · Archives of Disease in Childhood · 1992 · 477 citations · Full text

Medicine, Cardiology, Pediatrics +13

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady et al. · Nature Genetics · 1994 · 290 citations

Life Sciences, Genetics, Molecular Genetics +9