Associated Papers
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B et al.
Orphanet Journal of Rare Diseases, 2023
Multicenter Observational Study on Metastatic Non-Small Cell Lung Cancer Harboring BRAF Mutations: Focus on Clinical Characteristics and Treatment Outcome of V600E and Non-V600E Subgroups.
Perrone F et al.
Cancers, 2022
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.
Wei L et al.
Science Advances, 2021
33523857 (PubMed )
Supplement: abd7703_SM.pdf
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Lim CS et al.
Genes & Development, 2017
28404629 (PubMed )
Supplement: supp_31.6.537_Supplemental_Materials.pdf
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
Inoue S et al.
Human Molecular Genetics, 2014
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.
Haferlach T et al.
Leukemia, 2014
24220272 (PubMed )
Supplement: leu2013336x2.doc
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y et al.
American Journal of Medical Genetics. Part A, 2012
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2007
Select a paper to view details