Ohashi Hirofumi | Division Of Medical Genetics Saitama Children's Medical Center

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概要

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著作論文

Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication
Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome
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 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
A Comparison between Two-Dimensional and Three-Dimensional Cephalometry on Lateral Radiographs and Multi-Detector Row Computed Tomography of Human Skulls
Accuracy of Tooth Development Stage, Tooth Size and Dental Arch width in Multi-Detector Row Computed Tomography of Human Skulls
Deletion involving the TWIST locus and the HOXA cluster : A contiguous gene syndrome on 7p?
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome : Proposal of a new syndrome
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
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

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