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total:54
[2004]
| 21. | Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.[Mol Genet Metab,82(4),(2004),329-333] Yang Xue, Sakamoto Osamu, Matsubara Yoichi, Kure Shigeo, Suzuki Yoichi, Aoki Yoko, Suzuki Yasuyuki, Sakura Nobuo, Takayanagi Masaki, Iinuma Kazuie, Ohura Toshihiro | | |
| 22. | Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population.[Am J Med Genet A,127(1),(2004),11-16] Kanno Kiyoshi, Suzuki Yoichi, Yamada Atsushi, Aoki Yoko, Kure Shigeo, Matsubara Yoichi | | |
| 23. | Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.[Mol Genet Metab,81(4),(2004),343-346] ############################################################################################################################################################################################################################################################### | | |
| 24. | Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.[Mol Genet Metab,81(4),(2004),335-342] ############################################################################################################################################################################################################################################################### | | |
| 25. | Linkage and association of childhood asthma with the chromosome 12 genes.[J Hum Genet,49(3),(2004),115-122] ############################################################################################################################################################################################################################################################### | | |
[2003]
| 26. | Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.[Eur J Pediatr,162(7-8),(2003),548-549] Kondoh Tatsuro, Ishii Eiich, Aoki Yoko, Shimizu Takashi, Zaitsu Masafumi, Matsubara Yoichi, Moriuchi Hiroyuki | | |
| 27. | Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.[Mol Genet Metab,79(3),(2003),160-166] Santer R, Muhle H, Suormala T, Baumgartner E R, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U | | |
| 28. | Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.[Hum Mol Genet,12(9),(2003),995-1004] Kudo Takayuki, Kure Shigeo, Ikeda Katsuhisa, Xia An-Ping, Katori Yukio, Suzuki Masaaki, Kojima Kanako, Ichinohe Akiko, Suzuki Yoichi, Aoki Yoko, Kobayashi Toshimitsu, Matsubara Yoichi | | |
| 29. | Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.[J Hum Genet,48(12),(2003),622-628] Kayano Shuji, Kure Shigeo, Suzuki Yoichi, Kanno Kiyoshi, Aoki Yoko, Kondo Shinji, Schutte Brian C, Murray Jeffrey C, Yamada Atsushi, Matsubara Yoichi | | |
| 30. | Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part I).[Amino Acids,24(1-2),(2003),111-117] Cheon M S, Kim S H, Yaspo M-L, Blasi F, Aoki Y, Melen K, Lubec G | | |
[2002]
| 31. | Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.[Ann Neurol,52(6),(2002),779-785] Namekawa Michito, Takiyama Yoshihisa, Aoki Yoko, Takayashiki Norio, Sakoe Kumi, Shimazaki Haruo, Taguchi Tomohiro, Tanaka Yasufumi, Nishizawa Masatoyo, Saito Ken, Matsubara Yoichi, Nakano Imaharu | | |
| 32. | Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.[Ann Neurol,52(5),(2002),643-646] Kure Shigeo, Kojima Kanako, Ichinohe Akiko, Maeda Tomoki, Kalmanchey Rozalia, Fekete Gyorgy, Berg Suzan Z, Filiano Jim, Aoki Yoko, Suzuki Yoichi, Izumi Tatsuro, Matsubara Yoichi | | |
| 33. | 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.[J Hum Genet,47(6),(2002),269-274] Kanno Kiyoshi, Suzuki Yoichi, Yang Xuemei, Yamada Atsushi, Aoki Yoko, Kure Shigeo, Matsubara Yoichi | | |
[2001]
| 34. | Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.[Hum Genet,109(5),(2001),526-534] 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 | | |
| 35. | A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.[Neurosci Lett,312(2),(2001),71-74] Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y | | |
| 36. | Structure and expression of the glycine cleavage system in rat central nervous system.[Brain Res Mol Brain Res,94(1-2),(2001),119-130] Sakata Y, Owada Y, Sato K, Kojima K, Hisanaga K, Shinka T, Suzuki Y, Aoki Y, Satoh J, Kondo H, Matsubara Y, Kure S | | |
| 37. | Overexpression of p27Kip1 lengthens the G1 phase in a mouse model that targets inducible gene expression to central nervous system progenitor cells.[Proc Natl Acad Sci U S A,98(11),(2001),6435-6440] Mitsuhashi T, Aoki Y, Eksioglu Y Z, Takahashi T, Bhide P G, Reeves S A, Caviness V S Jr | | |
| 38. | 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),378-384] Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y | | |
[2000]
| 39. | Increased susceptibility to ischemia-induced brain damage in transgenic mice overexpressing a dominant negative form of SHP2.[FASEB J,14(13),(2000),1965-1973] Aoki Y, Huang Z, Thomas S S, Bhide P G, Huang I, Moskowitz M A, Reeves S A | | |
| 40. | Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.[Am J Med Genet,92(2),(2000),90-94] 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 | | |
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