スポンサーリンク
Department of Medical Genetics, Tohoku University School of Medicine | 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
- The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease : a proton magnetic resonance spectroscopic study
- Dynamic Cortical Activity during Spasms in Three Patients with West Syndrome : A Multichannel Near-infrared Spectroscopic Topography Study
- Molecular analysis of TBL1Y, a Y-linked homologue of TBL1X related with X-linked late-onset sensorineural deafness
- 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
- Unique Histopathological Features of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation
- FRS-040 Unique Arrhythmogenesis of a Familial Dilated Cardiomyopathy with Conduction Defect Caused by a Lamin A/C Gene Mutation(Arrhythmia-Clinical : Advances in Diagnosis and Management (A) : FRS5)(Featured Research Session (English))
- Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency