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学術誌に記載された原著論文
- R. Sasaki, Y.Inamo. K. Saitoh, T. Hasagawa, E. Kinoshita, T. Ogata: Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL. Endocrine J 50(3): 303-307, 2003.
- T.Kondoh, N.Amamoto, T.Hiorta, E.Kinoshita, H.Moriuchi, T.Matsumoto, M.Shimono, A.Kawakami, A.Shrahata: Very long eyelashes, long eyebrpws, aparse hair. And mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, on a new clinical entity? Am J Med Genet 120A: 437-8, 2003.
- P.Hoglund, N.Kurotaki, S.Kytola, N.Miyake, M.Somer, N.Matsumoto N: Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet. 2003 Jan;40(1):51-4.
- N.Miyake, N.Kurotaki, H.Sugawara, O.Shimokawa, N.Harada, T.Kondoh, M.Tsukahara, S.Ishikiriyama, T.Sonoda, Y.Miyoshi, S.Sakazume, Y.Fukushima, H. Ohashi, T.Nagai, H.Kawame, K.Kurosawa, M.Touyama, T.Shiihara, N.Okamoto, J.Nishimoto, K.Yoshiura, T.Ohta, T.Kishino, N.Niikawa, N.Matsumoto: Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in sotos syndrome. Am J Hum Genet. 2003 May;72(5):1331-7. Epub 2003 Apr 09.
- N.Kurotaki, N.Harada, O.Shimokawa, N.Miyake, H.Kawame, K.Uetake, Y.Makita, T.Kondoh, T.Ogata, T.Hasegawa, T.Nagai, T.Ozaki, M.Touyama, R.Shenhav, H.Ohashi, L.Medne, T.Shiihara, S.Ohtsu, Z.Kato, N.Okamoto, J.Nishimoto, D.Lev, Y.Miyoshi, S.Ishikiriyama, T.Sonoda, S.Sakazume, Y.Fukushima, K.Kurosawa, JF.Cheng, K.Yoshiura, T.Ohta, T.Kishino, N.Niikawa, N.Matsumoto: Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mutat. 2003 Nov;22(5):378-87.
- J.Kamimura, Y.Endo, N.Kurotaki, A.Kinoshita, N.Miyake, O.Shimokawa, N.Harada, R.Visser, H.Ohashi, K.Miyakawa, J.Gerritsen, AM.Innes, L.Lagace, M.Frydman, N.Okamoto, R.Puttinger, S.Raskin, B.Resic, Y.Culic, K.Yoshiura, T.Ohta, T.Kishino, M.Ishikawa, N.Niikawa, N.Matsumoto: Identification of eight novel NSD1 mutations in Sotos syndrome. J Med Genet. 2003 Nov;40(11):e126
- T.Nagai, N.Matsumoto, N.Kuroki, N.Niikawa, T.Ogata, K.Imaizumi, K.Kurosawa, T.Kondoh, H.Ohashi, M.Tsukahara, Y.Makita, T.Sugimoto, T.Sonoda, K.Uetake, S.Sakazune, Y.Fukushima, K.Naritomi: Sotos syndrome and haploinsufficiency of NSD1:clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 40(4): 285-289, 2003.
- T.Matsumoto, A.Tsuru, N.Amamoto, T.Shimizu, T.Kondoh, N.Saitoh, T.Tsujii, K.Tamagawa: Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy. J Hum Genet 48 (3):123-19, 2003.
- T.Kondoh, E.Ishii, Y.Aoki, T.Shimizu, M.Zaitsu, Y.Matsubara, H.Moriuchi: Noonan syndrome with leukemoid reaction and overproduction of cathecolamines: a case report. Eur J Pediatr162: 548-549, 2003
- N.Tominaga, K.Ohkusu-Tsukada, H.Udono, R.Abe, T.Matsuyama, K.Yui : Development of Th1 and not Th2 immune responses in mice lacking Interferon Regulatory Factor-4. Int Immunol 15:1-10, 2003.
- Moriuchi, M., Moriuchi, H. YY1 transcription factor downregulates the expression of CCR5, a co-receptor for HIV-1 entry. J. Biol. Chem. 278:13003-7, 2003.
- Moriuchi, M., Tamura, A., Moriuchi, H. In vitro reactivation of HIV-1 upon stimulation with scrub typhus rickettsial infection. Am. J. Trop. Med. Hyg.68:557-61, 2003.
- Moriuchi, M., Moriuchi, H. Increased infectivity by HIV-1 of peripheral blood lymphocytes in acute infection with Epstein-Barr virus. J. Med. Virol. 71:343-346, 2003.
- Fukuda Y, Isomoto H, Ohnita K, Omagari K, Mizuta Y, Murase K, Murata I, Moriuchi H, Kohno S. Impact of CagA status on serum gastrin and pepsinogen I and II concentrations in Japanese children with Helicobacter pylori infection. J. Int. Med. Res. 31:247-52, 2003.
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学術雑誌に掲載された総説及びアブストラクト
- T. Mochizuki, C. Tanaka, K. Fujita, T. Shimizu, E. Kinoshita: A four-year-old girl with Pit-1 gene mutation, extremely short stature and hypoglycemia. Clin Pediatr Endocrinol 12 (Supple 20): 81-85, 2003.
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