OKAMOTO Nobuhiko | Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
Morphological differences in cardiovascular anomalies induced by bis-diamine between Sprague-Dawley and Wistar rats
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
Chromosome 1q deletion and congenital glaucoma
Teratogenic effect of bis-diamine on embryonic rat heart
A NOVEL MUTATION IN L1CAM GENE IN A JAPANESE PATIENT WITH X-LINKED HYDROCEPHALUS
L1CAM mutation in a Japanese family with x-linked hydrocephalus: a study for genetic counseling
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
MEVALONIC ACIDEMIA : FIRST CASE OF JAPAN
A PATIENT WITH SCHINZEL-GIEDION SYNDROME AND A REVIEW OF 20 PATIENTS
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
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
Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
Diaphragmatic hernia following coronary artery bypass surgery with the right gastroepiploic artery : case report and literature review
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

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