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

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概要

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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
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))
Clinical characterization of familial dilated cardiomyopathy with conduction defect caused by a novel lamin A/C gene mutation
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

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