各診療班の紹介
 
業績集 欧文
 
2003
 
 
学術誌に記載された原著論文
  1. 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.
  2. 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.
  3. 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.
  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.
  5. 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.
  6. 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
  7. 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.
  8. 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.
  9. 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
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.

学術雑誌に掲載された総説及びアブストラクト
  1. 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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