Yamaguchi Koichi | Division Of Allergy National Center For Children Health And Development

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip
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
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
Association study of the C3 gene with adult and childhood asthma
No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
Effects of Probiotics on the Immune System and Allergic Diseases
6 Single nucleotide polymorphisms of CD14 and TLR2 is associated with the development of respiratory syncytial virus-induced bronchiolitis in Japanese children(II. Asthma Genetics)
Increased expression of α4β7 integrin on food allergen-stimulated CD4^+ T cells in active food allergic enterocolitis
Guidelines for Diagnosis and Management of Pediatric Food Allergy in Japan
Therapeutic Guidelines for Atopic Dermatitis 2002
Acute motor axonal neuropathy during intensive immunosuppressive therapy for macrophage activation syndrome
Relationship between RANTES polymorphisms and respiratory syncytial virus bronchiolitis in a Japanese infant population
Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
B-3. Cerebral Angiotomography : Technical Problems and Clinical
Efficacy and safety of orally administered pilocarpine hydrochloride for patients with juvenile-onset Sjogren's syndrome
Japanese pediatric guidelines for the treatment and management of bronchial asthma 2008
我が国における学童・生徒における肥満と喘息症状との関連
Sublingual Immunotherapy with House Dust-Extract for House Dust-Mite Allergic Rhinitis in Children
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis
Replication of genetic association studies in asthma and related phenotypes
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

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