Publication

Publication 2011
  1. Okada I, Hamanoue H., Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Noriko Miyake N, Furukawa T, Matsumoto N, and Saitsu H. SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice. Am J Hum Genet 88(1): 1-12, 2011 Jan.
  2. Amani D, Ravangard F, Niikawa N, Yoshiura KI, Karimzadeh M, Dehaghani AS, Ghaderi A. Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion. J Reprod Immunol 88(1): 42-47, 2011, Jan.
  3. Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A. Mutation and Copy Number Analysis in Paroxysmal Kinesigenic Dyskinesia Families. Movement Disorders 26(4): 762-764, Mar.
  4. Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H. Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. J Hum Genet 56(4): 296-299, 2011 Apr.
  5. Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H. Epidemiology of human papillomavirus genotypes in pregnant Japanese women. J Hum Genet 56(4): 313-315, 2011 Apr.
  6. Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H. Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis. PLos One 6(5): e20589, 2011 May.
  7. Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura K. Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma: Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays. Breast J 17(4): 427-430, 2011 Jul-Aug.
  8. Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 155A(7): 1511-1516, 2011 Jul.
  9. Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K. An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci USA108(36): 14914-14919, 2011 Sep6.
  10. Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura K. Agile parallel bioinformatics workflow management using Pwrake. BMC Res Notes4(1):331, 2011 Sep 8.
  11. Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H.Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology. J Obstet Gynaecol Res 37(11): 1666-1670, 2011 Jul 27.
  12. Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K. Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred. Eur Respir J 38(4): 861-869. 2011 Oct.
  13. Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N. Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. Clin Genet 80(5): 478-483. 2011 Nov.
  14. Oikawa M, Yoshiura KI, Kondo H, Miura S, Nagayasu T, Nakashima M. Significance of Genomic Instability in Breast Cancer in Atomic Bomb Survivors: Analysis of Microarray-Comparative Genomic Hybridization. Radiat Oncol 6: 168, 2011 Dec 7.