Yoko Narumi
Shinshu University(JP)Kitasato University(JP)
Publications by Year
Research Areas
Protein Tyrosine Phosphatases, Galectins and Cancer Biology, Peptidase Inhibition and Analysis, Genomic variations and chromosomal abnormalities, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome(2006)598 cited
- → The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders(2008)362 cited
- → Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation(2010)123 cited
- → Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome(2007)102 cited
- → Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature(2013)101 cited
- → Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene(2007)60 cited
- → A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation(2006)54 cited
- → A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases(2010)51 cited
- → Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome(2008)40 cited
- → Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome(2013)37 cited