業績

2004年業績
  1. 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 50(9): 1709-1711, 2004 Sep.
  2. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC: Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351(8): 769-780, 2004 Aug.
  3. Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N: A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family . J Med Genet 41(7):e97, 2004 Jul.
  4. Niikawa N. Molecular basis of Sotos syndrome. Horm Res 62 Suppl 3: 60-65, 2004.
  5. Clayton EW, Knoppers BM, Qiu R, Kent A, Dunston GM, Kato K, Niikawa N, Foster MW,  Adewole IF, Watkin J, Zhang H,  Zeng C, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Aniagwu T, Marshall PA, Matthew O, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Valle DL, Jorde LB, Belmont JW, Chakravarti A, Cho MK, Duster T, Foster MW, Jasperse M, Kwok PW, Licinio J, Long JC, Ossorio PN, Wang VO, Rotimi CN, Spallone P. Terry SF, Gibbs RA, Belmont JW, Sodergren E, Weinstock GM, Birren BW, Wilson RK, Fulton LL, Rogers J, FeoloM, Altshuler D, Daly MJ, Schaffner SF, Stein LD, Cunningham F, Kanani A, Thorisson GA, Chakravarti A, Chen PE,Cutler DJ, Kashuk CS, Lin S, Donnelly P, Marchini J, McVean GAT, Myers SR, Hardenbol P, Willis TD, Yu F, Altshuler D, Yang H, Ch'ang LY, Huang W, Liu B, Yan S, Tam PKH, Tsui L-C, Waye MMY, Wong JT-F, Zeng C, Zhang Q, Chee MS, Galver LM, Kruglyak S, Murray SS, .Oliphant AR, Montpetit A, , Chagnon F, Bellemare V, Todani K, Fujita T, Tanaka S, Holden AL, Lai EH, Collins FS, McEwen JE, Brooks LD, Guyer MS, Jordan E,  Peterson JL, Spiegel J, Sung LM, Zacharia LF, Dunn MG, Seabrook R, Shillito M, Skene B, Stewart JG, LanderE, Nickerson DA, Abecasis GR, Altshuler D, Bentley DR, Boehnke M, Cardon LR, Daly MJ, Deloukas P, Douglas JA, Gabriel SB, Hudson RR, Hudson TJ, Kruglyak L, Kwok PY, Nakamura Y, Nussbaum RL, Royal CDM, Sherry ST, Tanaka T (The International HapMap Consortium): Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5(6): 467-475, 2004 Jun.
  6. Mizuguchi T, Collod-Beroud G, Akiyama T, Harada N, Morisaki T, Abifadel M, Allard D, Varret M, Claustres M, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Niikawa N, Boileau C, Matsumoto N: Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36(8): 855-860, 2004 Aug.
  7. Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Phenotype-genotype correlation in two patients with 12q proximal deletion. J Hum Genet 49(5): 282-284, 2004.
  8. Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S, Unmasking of 15q microdeletion in a mentally retarded boy with r(Y) by microarray-based comparative genomic hybridization. Am J Med Genet A 130A(3): 322-324, 2004 Oct 15.
  9. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk Y, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A 128A(2): 170-172, 2004 Jul 15.
  10. Matsumoto T, Niikawa N. Eight novel microsatellite markers in the 3’ region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy. Prenat Diagn 24(12): 1014-1015, 2004 Dec 15.
  11. Masuzaki H, Miura K, Miura S, Yoshiura K, Mapendano CK, Nakayama D, Yoshimura S, Niikawa N, Ishimaru T. Labor increases maternal DNA contamination in cord blood. Clin Chem 50(9): 1709-1711, 2004, Sep.
  12. Masuzaki H, Miura K, Yoshiura K, Yoshimura S, Niikawa N, Ishimaru T: Detection of cell-free placental DNA in maternal plasma: Direct evidence from three cases of confined placental mosaicism. J Med Genet 41(4): 289-292, 2004, Apr.
  13. Iwata K, Takamura N, Nakashima M, Alipov G, Mine M, Matsumoto N, Yoshiura K, Prouglo Y, Sekine I, Katayama I, Yamashita S. Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinoma around Semipalatinsk nuclear testing site, Kazakhstan. Hum Pathol 35(4):460-464, 2004 Apr.
  14. Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT, Niikawa N, Yoshiura K. An isolated congenital anosmia locus maps to 18p11.23-q12.2. J Med Genet 41(4): 299-303, 2004 Apr.
  15. Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa N. Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98(4): 414-417. 2004 Oct.
  16. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N: 9q34.3 deletion syndrome in three unrelated children. Am J Med Genet A  126A(3): 278-283, Apr 30;
  17. Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. Hum Genet 49(8): 440-444, 2004 Jul 16.
  18. Nakamura Y, Takaira M, Sato E, Kawano K, Miyoshi O, Niikawa N. A tetraploid liveborn infant: Cytogenetic and autopsy findings. Arch Pathol Lab Med 127(12): 1612-1614, 2003 Dec.
  19. Kinoshita A, Shirahama A, Miyahara A, Nishimura G, Haga N,  Namba A, Ueda H, Hayashi H, Seidel J, Fukumaki Y, Ikegawa S, Niikawa N, Yoshiura K. TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet A 127A(1): 104-107, 2004 May 15.
  20. Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. J Hum Genet 49(7): 360-365, 2004.
  21. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A 127A(1): 54-57, 2004 May 15.
  22. Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Najafi M-T, Niikawa N, Yoshiura K. Isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families: A new clinical entity? Am J Med Genet A 127A(3): 307-309, 2004 Jun 15.
  23. Mizugichi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K. LRP5, low density lipoprotein receptor-related protein 5, is a determinant for bone mineral density (BMD). J Hum Genet 49(2):80-86, 2004.
  24. Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet A 128A(2): 133-137, 2004 July 15.
  25. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Niikawa N, Matsumoto N. Subtelomere-specific Microarray-based Comparative Genomic Hybridization. J Med Genet 41(2): 130-136, 2004 Feb.
  26. Yamada T, Mitsuya K, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Yamada H, Minakami H, Oshimura M, Niikawa N, Kishino T. Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. Genomics 83(3): 402-412, 2004 Mar.
  27. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Niikawa N, Matsumoto N. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41(2): 130-136, 2004 Feb.
  28. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N. 9q34.3 deletion syndrome in three unrelated children. Am J Med Genet 126A(3): 278-283, 2004 Apr 30..
  29. Kato R, Kawamura J, Sugawara H, Nilkawa N, Matsumoto N. A rapid diagnostic method for a Tetrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukiyama congenital muscular dystrophy. Am J Med Genet 127A(1): 54-57, 2004 May 15. 
  30. Clayton EW, Knoppers BM, Qiu R, Kent A, Dunston GM, Kato K, Niikawa N, Foster MW, Adewole IF, Waatkin J, Zhang H, Zeng C, Matsuda I, Fukushima Y, Macer DR. Suda E, Rotimi CN, Adebamowo CA, Aniagwu T, Marshall PA, Matthew O, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Valle DL, Jorde LB, Belmont JW, Chakravarti A, Cho MK, Duster T, Foster MW, Jasperse M, Kwok PW, Licinio J, Long JC, OSsorio PN, Warig VO, Rotimi CN, Spallone P, Terry SF, Gibbs RA, Belmont JW, Sodergren E, Weinstock GM, Birren BW, Wilson RK, Fulton LL, Rogers J, Feolo M, Altshuler D, Daly MJ, Schaffner SF, Stein LD, Cunningham F, Kanani A, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Donnelly P, Marchini J, McVean GAT, Myers SR, Hardenbol P, Willis TD, Yu F, Altshuler D, Yang H, Ch'ang LY, Huang W, Liu B, Yan S, Tam PKH, Tsui L-C, Waye MMY, Wong TJ-F, Zeng C, Zhang Q, Chee MS, Galver LM, Kruglyak S, Murray SS, Oriphant AR, Montpetit A, Chagnon F, Bellemare V, Todani K, Fujita T, Tanaka S, Holden AL, Lai EH, Collins FS, McEwen JE, Brooks LD, Guyer MS, Jordan E, Peterson JL, Spiegel J, Sung LM, Zacharia LF, Dunn MG, Seabrook R, Shillito M, Skene B, Stewart JG, Lander E, Nickerson DA, Abecasis GR, Altshuler D, Bentley DR. Boehnke M, Cardon LR, Daly MJ, Deloukas P, Douglas JA, Gadriel SB, Hudson RR, Hudson TJ, Kruglyak L, Kwok PY, Nakamura Y, Nussbaum RL, Royal CDM, Sherry ST, Tanaka T (The International HapMap Consortium): Integrating ethics and science in the International HapMap Project. Nat Rev Genet 5(6): 467-475, 2004 Jun. 
  31. Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet49(8): 440-444, 2004 Aug.
  32. Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S. Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y). Am J Med Genet A 130A(3):322-324, 2004 Oct 15.
  33. Matsumoto T, Niikawa N. Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy. Prenat Diagn 24(12):1014-1015, 2004 Dec 15.
  34. Niikawa N. Molecular basis of Sotos syndrome. Horm Res. 62 Suppl 3: 60-65. 2004.