国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

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患者・ご家族の方へ Patient & Family
患者・ご家族の方へ Patient & Family

(業績 平成23年度)遺伝診療科

平成23年度

[原著論文:査読付(Reviewed Paper)]

  1. Natsuga K, Nishie W, Shinkuma S, Nakamura H, Arita K, Yoneda K, Kusaka T, Yanagihara T, Kosaki R, Sago H, Akiyama M, Shimizu H : A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing. Exp Dermatol 2011 ;20(1): 74-76 
  2. Shimizu H, Migita O, Kosaki R, Kasahara M, Fukuda A, Sakamoto S, Shigeta T, Uemoto S, Nakazawa A, Kakiuchi T, Arai K : Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.  Am J Transplant 2011;11(2):394-398
  3. Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K : Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion. Am J Med Genet A 2011 ; 155A(5) : 903-905
  4. Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K : Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma. Am J Med Genet A 2011 ; 155A(5) : 1189-1191
  5. Kondoh T, Kanno A, Itoh H, Nakashima M, Honda R, Kojima M, Noguchi M, Nakane H, Nozaki H, Sasaki H, Nagai T, Kosaki R, Kakee N, Okuyama T, Fukuda M, Ikeda M, Shibata Y, Moriuchi H : Donepezil significantly improves abilities in daily lives of female Down syndrome patients with severe cognitive impairment: a 24-week randomized, double-blind, placebo-controlled trial. Donepezil significantly improves abilities in daily lives of female Down syndrome patients with severe cognitive impairment: a 24-week randomized, double-blind, placebo-controlled trial. Int J Psychiatry Med 2011 ; 41(1) : 71-89
  6. Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T. Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval. Am J Med Genet A 2011 ; 155A(9) : 2212-2214
  7. Numabe H, Sawai H, Yamagata Z, Muto K, Kosaki R, Yuki K, Kosaki K Reproductive success in patients with Hallermann-Streiff syndrome. Am J Med Genet A 2011;155A(9):1307-1310
  8. Tutsumi Y, Kosaki R, Itoh Y, Tsukamoto K, Matsuoka R, Shintani M, Nosaka S, Masaki H, Iizuka Y. Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation. Pediatrics 2011; 128(5):1307-10
  9. Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. Am J Med Genet A 2011 ; 155A(12) : 2925-2932