Matsumoto Naomichi | 長崎大学医歯薬学研究科人類遺伝学

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著作論文

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 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
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 analysis of 59 patients with schizophrenia
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
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)
Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
Chromosome 1q deletion and congenital glaucoma

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