Kurosawa Kenji | Division Of Genetics Clinical Research Institute Kanagawa Children's Medical Center

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
Brain MRI findings of older patients with Pallister-Killian syndrome
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome : Report of two cases and review of the literature
No sex differences in 18 trisomy births in the Kanagawa Birth Defects Monitoring Program
Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation
Prader-Willi 症候群様の症状を呈した1p36欠失症候群
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

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