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Results: 1-24 |
Results: 24
GJB2 (connexin 26) mutations and childhood deafness in Thailand
Authors: Kudo, T Ikeda, K Oshima, T Kure, S Tammasaeng, M Prasansuk, S Matsubara, Y
Citation: T. Kudo et al., GJB2 (connexin 26) mutations and childhood deafness in Thailand, OTOL NEURO, 22(6), 2001, pp. 858-861
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
Authors: Kure, S Kojima, K Kudo, T Kanno, K Aoki, Y Suzuki, Y Shinka, T Sakata, Y Narisawa, K Matsubara, Y
Citation: S. Kure et al., 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, J HUM GENET, 46(7), 2001, pp. 378-384
Complete suppression of insulitis and diabetes in NOD mice lacking interferon regulatory factor-1
Authors: Nakazawa, T Satoh, J Takahashi, K Sakata, Y Ikehata, F Takizawa, Y Bando, S Housai, T Li, Y Chen, C Masuda, T Kure, S Kato, I Takasawa, S Taniguchi, T Okamoto, H Toyota, T
Citation: T. Nakazawa et al., Complete suppression of insulitis and diabetes in NOD mice lacking interferon regulatory factor-1, J AUTOIMMUN, 17(2), 2001, pp. 119-125
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
Authors: Yang, X Aoki, Y Li, X Sakamoto, O Hiratsuka, M Kure, S Taheri, S Christensen, E Inui, K Kubota, M Ohira, M Ohki, M Kudoh, J Kawasaki, K Shibuya, K Shintani, A Asakawa, S Minoshima, S Shimizu, N Narisawa, K Matsubara, Y Suzuki, Y
Citation: X. Yang et al., Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency, HUM GENET, 109(5), 2001, pp. 526-534
A novel mutation in glial fibrillary acidic protein gene in a patient withAlexander disease
Authors: Aoki, Y Haginoya, K Munakata, M Yokoyama, H Nishio, T Togashi, N Ito, T Suzuki, Y Kure, S Iinuma, K Brenner, M Matsubara, Y
Citation: Y. Aoki et al., A novel mutation in glial fibrillary acidic protein gene in a patient withAlexander disease, NEUROSCI L, 312(2), 2001, pp. 71-74
Structure and expression of the glycine cleavage system in rat central nervous system
Authors: Sakata, Y Owada, Y Sato, K Kojima, K Hisanaga, K Shinka, T Suzuki, Y Aoki, Y Satoh, J Kondo, H Matsubara, Y Kure, S
Citation: Y. Sakata et al., Structure and expression of the glycine cleavage system in rat central nervous system, MOL BRAIN R, 94(1-2), 2001, pp. 119-130
Haplotype analysis suggests that the two predominant mutations in Japanesepatients with holocarboxylase synthetase deficiency are founder mutations
Authors: Yang, X Aoki, Y Li, X Sakamoto, O Hiratsuka, M Gibson, KM Kure, S Narisawa, K Matsubara, Y Suzuki, Y
Citation: X. Yang et al., Haplotype analysis suggests that the two predominant mutations in Japanesepatients with holocarboxylase synthetase deficiency are founder mutations, J HUM GENET, 45(6), 2000, pp. 358-362
Adenovirus-mediated in utero gene transfer in mice and guinea pigs: Tissuedistribution of recombinant adenovirus determined by quantitative TaqMan-polymerase chain reaction assay
Authors: Senoo, M Matsubara, Y Fujii, K Nagasaki, Y Hiratsuka, M Kure, S Uehara, S Okamura, K Yajima, A Narisawa, K
Citation: M. Senoo et al., Adenovirus-mediated in utero gene transfer in mice and guinea pigs: Tissuedistribution of recombinant adenovirus determined by quantitative TaqMan-polymerase chain reaction assay, MOL GEN MET, 69(4), 2000, pp. 269-276
Mutation Detection by TaqMan-allele specific amplification: Application tomolecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency
Authors: Fujii, K Matsubara, Y Akanuma, J Takahashi, K Kure, S Suzuki, Y Imaizumi, M Iinuma, K Sakatsume, O Rinaldo, P Narisawa, K
Citation: K. Fujii et al., Mutation Detection by TaqMan-allele specific amplification: Application tomolecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency, HUM MUTAT, 15(2), 2000, pp. 189-196
Characterization of coke deposited on catalysts by carbon K-edge near edgeX-ray absorption fine structure (NEXAFS) spectroscopy
Authors: Shimada, H Imamura, M Matsubayashi, N Saito, T Tanaka, T Hayakawa, T Kure, S
Citation: H. Shimada et al., Characterization of coke deposited on catalysts by carbon K-edge near edgeX-ray absorption fine structure (NEXAFS) spectroscopy, TOP CATAL, 10(3-4), 2000, pp. 265-271
Human glycine decarboxylase gene (GLDC) and its highly conserved processedpseudogene (psi GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
Authors: Takayanagi, M Kure, S Sakata, Y Kurihara, Y Ohya, Y Kajita, M Tada, K Matsubara, Y Narisawa, K
Citation: M. Takayanagi et al., Human glycine decarboxylase gene (GLDC) and its highly conserved processedpseudogene (psi GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia, HUM GENET, 106(3), 2000, pp. 298-305
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
Authors: Takahashi, K Akanuma, J Matsubara, Y Fujii, K Kure, S Suzuki, Y Wataya, K Sakamoto, O Aoki, Y Ogasawara, M Ohura, T Miyabayashi, S Narisawa, K
Citation: K. Takahashi et al., Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, AM J MED G, 92(2), 2000, pp. 90-94
Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
Authors: Akanuma, J Nishigaki, T Fujii, K Matsubara, Y Inui, K Takahashi, K Kure, S Suzuki, Y Ohura, T Miyabayashi, S Ogawa, E Iinuma, K Okada, S Narisawa, K
Citation: J. Akanuma et al., Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells, AM J MED G, 91(2), 2000, pp. 107-112
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
Authors: Kudo, T Ikeda, K Kure, S Matsubara, Y Oshima, T Watanabe, K Kawase, T Narisawa, K Takasaka, T
Citation: T. Kudo et al., Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population, AM J MED G, 90(2), 2000, pp. 141-145
Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reaction
Authors: Mizugaki, M Hiratsuka, M Agatsuma, Y Matsubara, Y Fujii, K Kure, S Narisawa, K
Citation: M. Mizugaki et al., Rapid detection of CYP2C18 genotypes by real-time fluorescence polymerase chain reaction, J PHARM PHA, 52(2), 2000, pp. 199-205
Glycogen storage disease type Ib without neutropenia
Authors: Kure, S Hou, DC Suzuki, Y Yamagishi, A Hiratsuka, M Fukuda, T Sugie, H Kondo, N Matsubara, Y Narisawa, K
Citation: S. Kure et al., Glycogen storage disease type Ib without neutropenia, J PEDIAT, 137(2), 2000, pp. 253-256
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut(0) patients
Authors: Mikami, H Ogasawara, M Matsubara, Y Kikuchi, M Miyabayashi, S Kure, S Narisawa, K
Citation: H. Mikami et al., Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut(0) patients, J HUM GENET, 44(1), 1999, pp. 35-39
Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio
Authors: Jackson, AH Applegarth, DA Toone, JR Kure, S Levy, HL
Citation: Ah. Jackson et al., Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio, J CHILD NEU, 14(7), 1999, pp. 464-467
Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
Authors: van der Knaap, MS Wevers, RA Kure, S Gabreels, FJM Verhoeven, NM van Raaij-Selten, B Jaeken, J
Citation: Ms. Van Der Knaap et al., Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter, J CHILD NEU, 14(11), 1999, pp. 728-731
Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations
Authors: Kure, S Rolland, MO Leisti, J Mandel, H Sakata, Y Tada, K Matsubara, Y Narisawa, K
Citation: S. Kure et al., Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations, PRENAT DIAG, 19(8), 1999, pp. 717-720
Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene
Authors: Hou, DC Kure, S Suzuki, Y Hasegawa, Y Hara, Y Inoue, T Kida, Y Matsubara, Y Narisawa, K
Citation: Dc. Hou et al., Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene, AM J MED G, 86(3), 1999, pp. 253-257
Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer
Authors: Nagasaki, Y Matsubara, Y Takano, H Fujii, K Senoo, M Akanuma, J Takahashi, K Kure, S Hara, M Kanegae, Y Saito, I Narisawa, K
Citation: Y. Nagasaki et al., Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer, PEDIAT RES, 45(4), 1999, pp. 465-473
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Authors: Kure, S Hou, DC Ohura, T Iwamoto, H Suzuki, S Sugiyama, N Sakamoto, O Fujii, K Matsubara, Y Narisawa, K
Citation: S. Kure et al., Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, J PEDIAT, 135(3), 1999, pp. 375-378
Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene
Authors: Shinka, T Kure, S Sakata, Y Takayanagi, M Matsubara, Y Narisawa, K
Citation: T. Shinka et al., Assignment of Gldc encoding glycine decarboxylase to mouse chromosome 19C by in situ hybridization and a CA repeat polymorphism in the Gldc gene, CYTOG C GEN, 83(3-4), 1998, pp. 260-261
Risultati: 1-24 |