Ohashi Hirofumi | Department Of Heredity Clinic Saitama Children's Medical Center

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概要

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著作論文

242 Analysis of apoptosis induction in Nbs1 deficient cells(Apoptosis related, Abstracts of the 46th Annual Meeting of the Japan Radiation Research Society)
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
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Mutation Analysis of the Fanconi Anemia Gene FAA in Japanese patients
Mutation Analysis of the Fanconi Anemia Genes in Japanese Patients
P3-IS-49 Non-invasive magnetic resonance imaging-guided focused ultrasound treatment for uterine fibroids : early experience(Group90 Perinatology+Women's Health2,International Session)
HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
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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