Publication

Publication 2005
  1. Amani D, Dehaghani SA, Zolghadri J, Ravangard F, Niikawa N, Yoshiura K, Ghaderi A. Lack of association between the TGF-b1 gene polymorphisms and recurrent spontaneous abortion. J Reprod Immunol 68(1-2): 91-103, 2005 Dec.
  2. Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions. J Med Genet 42(11):e66, 2005 Nov.
  3. Nomura M, Hamasaki Y, Ktayama I, Niikawa N, Yosiura K. Eosinophil infiltration and amyloidsis in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family. J Hum Genet 50(9): 483-489, 2005 Sep 20.
  4. Gibbs RA, Belmont JW, Boudreau A, Leal S, Hardenbol P, Pasternak S, Wheeler DA, Willis TD, Yu1F, Yang H, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zeng C, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabrie SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen6 Y, Yao Z, Huang W, Chu X, He W, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Wang Y, Xiong X, Xu L, Tsui SKW, Xue H, Wong JT-F, Galver LM, Fan J-B, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Oliver JF, Phillips MS, Roumy S, Sall S, Verner A, Hudson TJ, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Kwok R-Y, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Sham PC, Song YQ, Tam PKH, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Delgado M, Gwilliam R, Hunt S, Morrison J, Powell D, Whittake P, Bentley DR, Daly MJ, de Bakker PIW, Barrett J, Fry B, McCarroll S, Patterson N, Pe’er I, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Varilly P, Altshuler D, Stein LD, Krishnan L, Vernon Smith A, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Munro HM, Qin ZS, Thomas DJ, Bottolo L, Eyheramendy S, Freeman C, Marchini J, McVean G, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Mullikin JC, Sherry ST, Feolo M, Dermitzakis ET, Bird CP, Stranger BE, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Muzny B, Nazareth L, Pasternak S, Sodergren E, Weinstock GM, Wheeler DA, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Birren BW, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêue P, Bellemare G, Saeki K, An D, Li Q, Wang H, Qiu H, Wang R, Holden AL, Brooks LD, Guyer MS, McEwen JE, Nailer PJ, Ota Wang V, Peterson JL, Shi M, Spiegel J, Sung LM, Witonsky J, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. A Haplotype Map of the Human Genome. Nature 437(7063): 1299-1320, 2005 Oct 27.
  5. Matsumoto T, Miyake N, Watanabe Y, Yamanaka G, Oana S, Ogiwara M, Hoshika A, Miyahara H, Niikawa N. X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB. Am J Med Genet A 138A(3): 300-302, 2005 Oct 15.
  6. Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N. Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. Brain Develop 27(5): 389-391, 2005 Aug.
  7. Machida H, Tsukamoto K, Wen C-Y, Narumi Y, Shikuwa S, Isomoto H, Takeshima F, Mizuta Y, Niikawa N, Murata I, Kohno S. Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese. World J Gastroenterol 11(27): 4188-4193, 2005 Jul.
  8. Machida H, Tsukamoto K, Wen C-Y, Shikuwa S, Isomoto H, Mizuta Y, Takeshima F, Murase K, Matsumoto N, Murata I, Kohno S. Crohn’s disease in the Japanese is associated with a SNP-haplotype of the N-acetyltransferase 2 gene. World J Gastroenterol 11(31): 4833-4837, 2005 Aug 21.
  9. Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura K, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. Hum Mol Genet 14(17): 2511-2530, 2005 Sep 1.
  10. Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 136A(1): 49-51, 2005 Jul 1.
  11. Nagai T, Obata K, Tonoki H, Temma S, Murakami N, Katada Y, Yoshino A, Sakazume S, Takahashi E, Sakuta R, Niikawa N. Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment. Am J Med Genet A 136A(1): 45-48, 2005 Jul 1.
  12. Masuzaki H, Miura K, Yamasaki K, Miura S, Yoshiura K, Yoshimura S, Nakayama D, Mapendano CK, Niikawa N, Ishimaru T. Clinical Applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease. Clin Chem 51(7): 1261-1263, 2005 Jul.
  13. Jin Z-B, Liu X-Q, Uchida A, Vervoot R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-I N. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. Mol Vis 11:535-541, 2005 Jul 19.
  14. Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K. A large deletion involving the 5’-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia. Am J Med Genet A 133A(1): 13-17, 2005 Feb 15.
  15. Masuzaki H, Miura K, Yoshiura K, Yamasaki K, Yoshimura S, Miura S, Nakayama D, Mapendano CK, Niikawa N, Ishimaru T. Placental mRNA in maternal plasma and its clinical application to the evaluation of the placental status in a pregnant woman with placenta previa-percreta. Clin Chem 51(5): 923-925, 2005 May.
  16. Miyake N, Visser R, Kinoshita A, Yoshiura K, Harada N, Okamoto N, Sonoda T, Kaname T, Chinen Y, Naritomi K, Tonoki H, Kondoh T, Kurosawa K, Niikawa N, Matsumoto N. Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A 135A(1): 103-105, 2005 May 15.
  17. Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupsli JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet 14(4): 535-542, 2005 Feb 15.
  18. Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 76(1): 52-67, 2005 Jan.
  19. Miura K, Niikawa N. Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology? J Hum Genet 50(1): 1-6, 2005.