Publication

Publication 2008
  1. Nakashima M, Nakano M, Hirano A, Kishino T, Kondoh S, Miwa N, Niikawa N, Yoshiura K. Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. J Hum Genet 53(1): 34-41, 2008.
  2. Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, NiikawaN, Yoshiura K. A Down syndrome girl with partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region.  Am J Med Genet 146A: 124-127, 2008 Jan 1.
  3. Nakashima M, Tsuda M, Kishino T, Kondoh S, Kinoshita A, Shimokawa O, Niikawa N, Yoshiura K. The accuracy of SNP genotyping using genomic DNA extracted from finger nail: Comparison with blood.  Clin Chem 54(10): 1746-1748. 2008 Oct.
  4. Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K, Niikawa N. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. J Med Genet 45(7): 479-480, 2008 July.
  5. Wu L, Long Z, Liang D, Harada N, Pan Q, Yoshiura, K, Xia K, Dai H, Niikawa N, Xia J. Pre- and postnatal overgrowth in a patient with proximal 4p deletion. Am J Med Genet A 146A(6): 791-794, 2008 Mar 15.
  6. Miura K, Miura S, Yamasaki K, Yoshida A, Yoshiura K, Nakayama D, Niikawa N, Masuzaki H. Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy. Prenat Diagn 28(9): 805-809, 2008 Sep.
  7. Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. Am J Med Genet A 149A(4): 785-787. 2009 Feb 15.
  8. Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome. Am J Med Genet A 146A(14): 1893-1896, 2008 Jul 15.