Publication

Publication 2006
  1. Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet 38(11): 1335-1340, 2006 Nov.
  2. Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K. A novel missense mutation in Van der Woude syndrome: Usefulness of fingernail DNA for genetic analysis. J Dent Res 85(12): 1143-1146, 2006 Dec.
  3. Miura K, Yoshiura K, Miura S, Yamasaki K, Yoshida A, Shimada T, Fujimoto Y, Nakayama D, Ishimaru T, Wagstaff  J, Niikawa N, Masuzaki J. Cell-free DNA as a more sensitive molecular marker for evaluation of fetal-maternal hemorrhage than cell-free mRNA. Clin Chem 52(11): 2121-2123, 2006 Nov.
  4. Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic choreoathetosis: From first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 70(Suppl 1): S174-184, 2006 Aug.
  5. Nagai T, Ogata K, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N. Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet A 140A:1623-1627, 2006 Aug 1.
  6. Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura K. Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. J Clin Pathol 59(10): 1084-1086, 2006 Oct.
  7. Miura K, Yoshiura K, Miura S, Kondoh T, Harada N, Yamasaki K, Fujimoto Y, Yamasaki Y, Tanigawa T, Kitajima T, Shimada T, Nakayama D, Tagawa M  Yoshimura S, Jinno Y, Ishimaru T, Niikawa N, Masuzaki H: Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause. Am J Med Genet A 140A(17): 1827-1833, 2006 Sep1.
  8. Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N: Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal’ karyotypes. Am J Med Genet A 140A(18): 1931-1936, 2006 Sep 15.
  9. Miura S, Miura K, Yamamoto T, Yamanaka M, Saito K, Hirabuki T, Kurosawa K, Yamasaki Y, Matsumoto N, Hirahara F, Yohiura K, Masuzaki H, Niikawa N. Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses. Am J Med Genet A 140A(16):1737-1743, 2006 Aug 15.
  10. Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Niikawa N, Sengoku K. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet 51(6): 533-540, 2006.
  11. Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura K, Sosonkina N, Harada N, Shimokawa O, Nakayama D, Yoshimura S, Matsumoto N, Niikawa N, Ishimaru T. Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid. J Hum Genet 51(5): 412-417, 2006. 
  12. Watanabe A, Akita S, NatsumeN, Nakano Y, Nikawa N, Uchiyama T, Yoshiura K. A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate. Cleft Palate Craniofac J 43(3): 310-316, 2006 May.
  13. Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A 140A(4): 373-377, 2006 Feb 15.
  14. Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J. A father and son with mental retardation, a characteristic face inv(12), and insertion trisomy 12p12.3-p11.2. Am J Med Genet A 140A(3): 238-244, 2006 Feb 1.
  15. Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura K, Hishikawa Y, Koji T, Niikawa N, Ohta T. Expression of the Snurf-Snrpn IC transcript in the oocyte and putative role in the imprinting establishment of the mouse 7C imprinting domain.  J Hum Genet 51(3): 236-243, 2006 Jan 21.
  16. Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T. Mukai T, Niikawa N. A primary palmar hyperhidrosis locus maps to 14q11.2-q13. Am J Med Genet A 140A(6): 567-572, 2006 Mar 15.
  17. Visser R, Hasegawa T, Niikawa N, Matsumoto N. Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype. J Hum Genet 51(1): 15-20, 2006 Oct 27.
  18. Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Linag D-S, Miwa N, Kim D-K, Ariuntuul G, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N: SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet 38(3): 324-330, 2006 Mar.
  19. Ichikawa E, Watanabe A, Nakano Y, Hirano A, Akita S, Kinoshita A, Kondo, S, Kishino, T, Uchiyama T, Niikawa N, Yoshiura K. PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese: Population-based and family-based candidate gene analyses. J Hum Genet 51(1): 38-46, 2006 Oct 25.
  20. Miyake N, Shimokawa O,  Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou J-W, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A 140A(3): 291-293, 2006 Feb 1.
  21. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A 140A(3): 205-211, 2006 Feb 1.