Suzuki Yoichi | Department Of Medical Genetics Tohoku University School Of Medicine

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著作論文

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
CIPRO 2.5 : Ciona intestinalis protein database, a unique integrated repository of large-scale omics data, bioinformatic analyses and curated annotation, with user rating and reviewing functionality
Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue
Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor
Isolation and chromosomal mapping of a novel human gene showing homology to Na^+/PO4 cotransporter
A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3
Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif
Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)
Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene
Evola : Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees
Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones
Improved genome assembly and evidence-based global gene model set for the chordate Ciona intestinalis : new insight into intron and operon populations
The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts
Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis

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