各診療班の紹介
 
業績集 欧文
 
2005
 
 
A 欧 文
A-a
  1. T.Kondoh, O.Shimokawa, N.Harada, T.Doi, C.Yun, Y.Gohda, F.Kinoshita, T.Matsumoto H.Moriuchi:Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. J Hum Genet , 50 (1), 26-29, 2005.*
  2. T.Kondoh, N.Amamoto, T.Doi, H.Hamada, Y.Ogawa, M.Nakashima, H.Sasaki, K.Aikawa, T.Tanaka, M.Aoki, J.Harada, H.Moriuchi: Dramatic Improvement in Down Syndrome-Associated Cognitive Impairment with Donepezil. Ann Pharmacother, 39(3), 563-6, 2005. *◎
  3. T.Kondoh, M.Nakashima, H.Sasaki, H.Moriuchi: Pharmacokinetics of donepezil in Down syndrome. Ann Pharmacother, 39(3):572-3, 2005.*◎
  4. N.Miyake, R.Visser, A.Kinoshita, KI.Yoshiura, N.Niikawa, T.Kondoh, N.Matsumoto, N.Harada, N.Okamoto, T.Sonoda, K.Naritomi, T.Kaname, Y.Chinen, H.Tonoki, K.Kurosawa: Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A, 135(1), 103-5, 2005. *
  5. T.Niihori, Y.Aoki, H.Ohashi, K.Kurosawa, T.Kondoh, S.Ishikiriyama, H.Kawame, H.Kamasaki, T.Yamanaka, F.Takada, K.Nishio, M.Sakurai, H.Tamai, T.Nagashima, Y.Suzuki, S.Kure, K.Fujii, M.Imaizumi, Y.Matsubara. Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J Hum Genet, 50(4): 192-202, 2005. *
  6. N.Kurotaki, JJ.Shen, M.Touyama, T.Kondoh, V.Remco, T.Ozaki, J.Nishimoto, T.Shiihara, K.Uetake, Y.Makita, N.Harada, S.Raskin, CW.Brown, P.Hoglund, N.Okamoto, JR.Lupski. Phenotype consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coaglation factor twelve (FXII) deficiency. Genetics Med, 7(7), 479-483, 2005. *
  7. Takahira S, Kondoh T, Sumi M, Tagawa M, Obatake M, Kinoshita E, Shimokawa O, Harada N, Miyake N, Matsumoto N, Moriuchi H. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? Am J Med Genet ,138(3), 297-299, 2005. *
  8. Sumi M, Kusumoto T, Tagawa M, Kondoh T, Ohno Y, Masuzaki H, Ishimaru T, Moriuchi H. Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis. Pediatr Int, 47(5), 586-588, 2005. *
  9. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima.Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A. 2005 Nov 8; [Epub ahead of print] *
  10. Naganuma M, Kondoh T, Tashiro K, Gohda Y, Nakane H, Kinoshita E, Matsumoto T, Moriuchi H: The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. Pediatr Int, 47(6), 691-693, 2005. *
  11. Moriuchi M, Yoshimine H, Oishi K, Moriuchi H. Norepinephrine inhibits human immunodeficiency virus type-1 infection through the NF-kappaB inactivation. Virology, 2005 Nov 8 [Epub ahead of print]. *
  12. Honda R, Ohno Y, Iwasaki T, Okudaira S, Okada M, Kamitamari A, Oshima K, Moriuchi H, Kanematsu T. Langerhansユ cell histiocytosis after living donor liver transplantation: report of a case. Liver Transpl, 11(11), 1435-8, 2005. *
 
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