Associated Papers
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Gao Q et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Ferrari L et al.
European Journal of Human Genetics : Ejhg, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
Alternative splicing of jnk1a in zebrafish determines first heart field ventricular cardiomyocyte numbers through modulation of hand2 expression.
Santos-Ledo A et al.
Plos Genetics, 2020
Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism.
Rodríguez F et al.
Andrology, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
Moncini S et al.
European Journal of Human Genetics : Ejhg, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2012
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M et al.
American Journal of Medical Genetics. Part A, 2010