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
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Barbero AIS et al.
American Journal of Medical Genetics. Part A, 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
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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
A Rare Case of Diffuse-type Tenosynovial Giant Cell Tumor in a Teenager With Noonan Syndrome.
Guiffre D et al.
Journal of Pediatric Hematology/oncology, 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
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 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
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency.
Yan H et al.
Prenatal Diagnosis, 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
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
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J et al.
Archivos Argentinos De Pediatria, 2019
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A et al.
American Journal of Medical Genetics. Part A, 2019
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Aljeaid D et al.
American Journal of Medical Genetics. Part A, 2019
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Ceyhan-Birsoy O et al.
Human Mutation, 2018
Oncogenic Signaling Pathways in The Cancer Genome Atlas.
Sanchez-Vega F et al.
Cell, 2018
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome.
Miri O et al.
Case Reports in Orthopedics, 2018
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Zhao B et al.
Plos Genetics, 2016
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
Croonen EA et al.
Molecular Syndromology, 2013
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR et al.
Clinics (sao Paulo, Brazil), 2013
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
Karbach J et al.
American Journal of Medical Genetics. Part A, 2012
RASopathies: Clinical Diagnosis in the First Year of Life.
Digilio MC et al.
Molecular Syndromology, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
Gómez-Carballa A et al.
Plos One, 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-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.
Slezak R et al.
Clinical Dysmorphology, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
Beneteau C et al.
European Journal of Human Genetics : Ejhg, 2009
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE et al.
European Journal of Human Genetics : Ejhg, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.
Mascheroni E et al.
American Journal of Medical Genetics. Part A, 2008
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