Associated Papers
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth.
Tajan M et al.
Human Molecular Genetics, 2018
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
De Rocca Serra-Nédélec A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
Edouard T et al.
Molecular and Cellular Biology, 2010
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
Hanna N et al.
Febs Letters, 2006
Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.
Lee WH et al.
Proteins, 2005
Select a paper to view details