YOSHIURA Koh-ichiro | Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

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著作論文

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
A Japanese patient with a mild Lenz-Majewski syndrome
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
Phenotype-genotype correlation in two patients with 12q proximal deletion
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

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