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Publication 2010
  1. Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K. A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12. J Hum Genet 55(2): 124-126, 2010 Feb.
  2. Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome. J Hum Genet 55(3): 142-146. 2010 Mar.
  3. Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H. A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. Hum Reprod 25(4): 1076-1080, 2010 Apr.
  4. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42(9): 790-793, 2010 Sep.
  5. Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. Am J Med Genet A 152A(9): 2262-2267, 2010 Sep;
  6. Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H. The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma. Prenatal Diagnosis 30(9):849-861, 2010 Sep.
  7. Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K. Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. Eur J Med Genet 53(5): 244-249, 2010 Sep-Oct.
  8. Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y. Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia. Twin Res Hum Genet 13(5): 455-460, 2010 Oct.
  9. Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura K, Masuzaki H. Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma. Clin Chem 56(11): 1767-1771, 2010 Nov.
  10. Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T, Endo I and Shimada H. Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11. Anticancer Research 30(12): 5189-5194, 2010 Dec.