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Publication 2003
  1. Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Identification of eight novel NSD1 mutations in Sotos syndrome. J Med Genet 40(11): e126, 2003 Nov.
  2. Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mutat 22(5): 378-387. 2003 Nov.
  3. Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am J Med Genet 120A(1):123-126, 2003 Jul 1.
  4. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: Complex low copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82(2): 238-244, 2003 Aug.
  5. Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T. Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. Genomics 81(6): 644-647, 2003 Jun.
  6. Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.  Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in sotos syndrome. Am J Hum Genet 72(5): 1331-1337, 2003 May.
  7. Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N. A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. Int J Mol Med 11(4): 505-507, 2003 Apr.
  8. Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain. Hum Genet 112(3): 220-226, 2003 Mar.
  9. Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N. Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. Am I Med Genet 120A(4): 557-561, 2003. Aug 1.
  10. Broman KW, Matsumoto N, Giglio S, Martin CL, Roseberry JA, Zuffardi O, Ledbetter DH, Weber JL. Common long human inversion polymorphism on chromosome 8p. In: Goldstein DR (ed) Science and Statistics: A Festschrift for Terry Speed. IMS Lecture Notes-Monograph Series 40: 237-245, 2003.
  11. Peeters H, Debeer Ph, Wilquet V, Huysmans C, Parthoens E, Fryns JP, Gewillig M, Nakamura Y, Niikawa N, Van de Ven W, Devriendt K. PA26 is a candidate gene for heterotaxia in humans: Identification of a novel, PA26-related gene family in human and mouse. Hum Genet 112(5-6): 573-580, 2003 May.
  12. Asanoma K, Matsuda T, Kondo H, Kato K, Kishino T, Niikawa N, Wake N, Kato H. NECCl, a candidate choriocarcinoma suppressor gene that encodes a homeodomain consensus motif. Genomics 81(1): 15-25, 2003 Jan.
  13. Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Ogawa M, Wagstaff J, Kishino T. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet 12(8): 837-847, 2003 Apr 15.
  14. Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Nantomi K. Sotos syndrome and haploinsufficiency of NSDl: Clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 40(4): 285-289, 2003 Apr.
  15. Sonoda T, Kouno K, Sawada K, Takagi J, Nunoi H, Harada N, Matsumoto N. Duplication (22)(q11.22 q11.23) without coloboma and cleft lip or palate. Pediatr Int 45(1): 97-99, 2003 Feb.
  16. Höglund P, Kurotaki N, Kytölä S, Miyake N, Somer M, Matsumoto N. Familial Sotos syndrome is caused by a novel 1 base pair deletion of the NSDl gene. J Med Genet 40(1): 51-54, 2003 Jan.
  17. Saenko V, Rogounovitch T, Shimizu-Yoshida Y, Abrosimov A, Lushnikov E, Roumiantsev P, Matsumoto N, Nakashima M, Meirmanov S, Ohtsuru A, Namba H, Tsyb A, Yamashita S. Novel tumorigenic rearrangement, rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient. Mutat Res 527(1-2): 81-91, 2003 Jun 19.
  18. Yamada K, Andrew C, Chan W-M, McKeown CA, Magli A, de Beratdinis T, Lowenstein A, Lazar M, O’Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akersu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov A, Robb RM, Roggenkamper P, Gottlob I, Kowal L, Battu R, Traboulsi El, Franceschini P, Newlin A, Demer JL, Engle EC: Heterozygous mutations of the kinesin KIP21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genet 35(4): 318-321, 2003 Apr.
  19. Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto I, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mut 22(5) : 378-387, 2003 Nov.
  20. Higashimoto K, Urano T, Sugiura K, Yatsuki H, Joh K, Wei Z, Iwakawa M, Ohashi H, Oshimura M, Niikawa N, Mukai T, Soejima H. Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome. Am I Hum Genet 73(4): 948-956, 2003 Oct.
  21. Kayashima T, Ohta T, Niikawa N, Kishino T. On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: Strain-background-dependent imprinting? J Hum Genet 48(9): 492-493, 2003.
  22. Bessho M, Hotta T, Ohyashiki K, Takahashi T, Mizoguchi H, Asano S, Ikeda Y, Sakurai M, Tojo A, Kizaki M, Iwanaga M, Tomonaga M, Hirashima K. Multi-center prospective study of clonal complications in adult aplastic anemia patients, following rhG-CSF (Lenograstim) administration. Int J Hematol 77(2): 152 158, 2003 Feb.
  23. Gibbs RA, Belmont JW, Hardenbol P, Willis TD, Yu F, Yang H-M, Ch'ang LY, Huang W, Liu B, Shen Y, Tam R K-H, Tsui L-C, Waye MMY, Wong JTF, Zeng C-Q, Zhang Q-R, Chee MS. Galver LM, Kruglyak S, Murray SS, Oliphant AR, Montpetit A, Hudson TJ, Chagnon F, Ferretti V, Leboeuf M, Phillips MS. Verner A, Kwok P-Y, Duan S, Lind DL, Miller RD, Rice JP, Saccone NL, Taillon-Miller P, Xiao M, Nakamura Y, Sekine A, Sorimachi K, Tanaka T, Tanaka Y, Tsunoda T, Yoshino E, Bentley DR. Deloukas P, Hunt S, Powell D, Altshuler D, Gabriel SB, Zhang H, Zeng C, Matsuda I, Fukushima Y, Macer DR. Suda E, Rotimi ICN, Adebamowo CA, Aniagwu T, Marshall FA, Matthew O, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Stein LD, Cunningham F, Kanani A, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Donnelly P, Marchini J, McVean GAT, Myers SR, Cardon LR, Abecasis GaL, Morris A, Weir BS, Mullikin JC, Sherry ST, Feolo M, Altshuler D, Daly MJ, Schaffner SE, Qiu R, Kent A, Kato K, Niikawa N, Knoppers BM, Foster MW, Clayton EW, Warig VO, Watkin J, Gibbs RA, Belmont JW, Sodergren E, Weinstock GM, Wilson RK, Fulton LL, Rogers J, Birren BW, Han H, Warig H-G, Godbout M, Wallenburg IC, L'Archevêque P, Bellemare G, Todani K, Fujita T, Tanaka S, Holden AL, Lai EH, Collins FS, Brooks LD, McEwen JE, Guyer MS, Jordan E, Peterson JL, Spiegel J, Sung LM, Zacharia LF, Kennedy K, Dunn MG, Seabrook R, Shillito M, Skene B, Stewart JG (The International HapMap Consortium): The International HapMap Project. Nature 426(6968): 789-796, 2003 Dec.