Associated Papers
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.
Kendir-Demirkol Y et al.
Molecular Syndromology, 2025
Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series.
Elekes T et al.
Journal of Clinical Medicine, 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
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 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
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D et al.
Genes, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Circulating DNA as prognostic biomarker in patients with advanced hepatocellular carcinoma: a translational exploratory study from the SORAMIC trial.
Alunni-Fabbroni M et al.
Journal of Translational Medicine, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D et al.
The British Journal of Dermatology, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Leung GKC et al.
Scientific Reports, 2018
Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.
Santoro C et al.
Clinical Genetics, 2018
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
Yang F et al.
Oncotargets and Therapy, 2018
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
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
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.
Hastings R et al.
Genes, Chromosomes & Cancer, 2010
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2010
Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI et al.
Genes, Brain, and Behavior, 2009
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M et al.
Nature Genetics, 2007
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE et al.
Nature Genetics, 2007
A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.
Ando Y et al.
Case Reports in Neurology, 0