Associated Papers
Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.
Yi S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
38463782 (PubMed )
Supplement: mmc1.pdf
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.
Rodríguez F et al.
American Journal of Medical Genetics. Part A, 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
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL et al.
American Journal of Medical Genetics. Part A, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS et al.
Nature Genetics, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.
Schulz S et al.
Prenatal Diagnosis, 2012
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 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
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T et al.
Human Mutation, 2010
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA et al.
Nature Genetics, 2007
Select a paper to view details