Associated Papers
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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 2025
Characterization of the BH1406 non-small cell lung cancer (NSCLC) cell line carrying an activating SOS1 mutation.
Hamilton G et al.
Translational Lung Cancer Research, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC et al.
Plos One, 2022
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S et al.
Frontiers in Endocrinology, 2022
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways.
Sigamani V et al.
Current Genomics, 2021
Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
Schreuder WH et al.
Bone, 2021
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M et al.
Clinical Endocrinology, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.
Rodríguez FA et al.
Birth Defects Research, 2020
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Rojnueangnit K et al.
Pediatric Cardiology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Oncogenic Signaling Pathways in The Cancer Genome Atlas.
Sanchez-Vega F et al.
Cell, 2018
Psychopathological features in Noonan syndrome.
Perrino F et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
RASopathy Gene Mutations in Melanoma.
Halaban R et al.
The Journal of Investigative Dermatology, 2016
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Zhao B et al.
Plos Genetics, 2016
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G et al.
American Journal of Medical Genetics. Part A, 2016
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Krauthammer M et al.
Nature Genetics, 2015
Clinical and Molecular Findings of Tunisian Patients with RASopathies.
Louati R et al.
Molecular Syndromology, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Şimşek-Kiper PÖ et al.
Clinical Genetics, 2013
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
Alfieri P et al.
Behavior Genetics, 2011
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
Tartaglia M et al.
Annals of the New York Academy of Sciences, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M et al.
Journal of Medical Genetics, 2007
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M et al.
Nature Genetics, 2007