Yoshiura Koh-ichiro | 長崎大学医歯薬学総合研究科人類遺伝学

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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
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
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
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
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)
A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
Epidemiology of human papillomavirus genotypes in pregnant Japanese women
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
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

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