Publication

HOME > Publication >2000
Publication 2000
  1. Yoshiura K, Noda Y, Kinoshita A, and Niikawa N. Colocalization of Doublecortin with the microtubules: An ex vivo colocalization study of mutant doublecortin. J Neurobio 43(2): 132-139, 2000May.
  2. Kinoshita A., Tomita H., Makita Y., Yoshida K., Ghadami M., Yamada K., Kondo S., Ikegawa S., Nishimura G., Fukushima Y. Murray J.C., Niikawa N., and Yoshiura K. Domain specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Engelmann disease. Nature Genet 26(8): 19-20, 2000 Aug.
  3. Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. Eur J Hum Genet 8(7): 535-539, 2000 Jul.
  4. Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, Niikawa N, Amemiya T. Two nonsense mutations of PAX6 in two Japanese anindia families: case report and review of the literature. Eur J Ophthalmol 10(2): 167-172, 2000 Apr-Jun.
  5. Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Do byns WB. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today 6(7): 277-284, 2000 Jul.
  6. Matsumoto N, David DE, Johnson EW, Konecki D, Burmester IK, Ledbetter DH, Weber IL: Breakpoint sequences of an I;8 translocation in a family with Gilles de la Tourette Syndrome. Eur J Hum Genet 8(11): 875-883, 2000 Nov.
  7. Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WD, Ledbetter DH. The location and type of mutation predict in malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9(20): 3019-3028, 2000 Dec 12.
  8. Ikeda K, Naka S, Egashira M, Matsumoto N, Niikawa N, Iwata N, Yoshimura A: Construction of rice chromosome specific DNA libraries using chromosome microdissection technique and its application for mapping. J Fac Agr Kyushu Univ 45(1): 73-82, 2000.
  9. Ghadami M, Makita Y, Yoshida K, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita H. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.2-q13.3. Am J Hum Genet 66(1): 143-147, 2000 Jan.
  10. Yamada K, Tomita H, Amemiya T, Niikawa N: Genetically distinct autosomal dominant posterior polar cataract in a five generation Japanese family. Am J Ophthalmol 129(2): 159-165, 2000 Feb.
  11. Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M. Young-Simpson syndrome representing transient hypothyroidism, normal growth, macular degeneration and torticolis. Am J Med Genet 90(1): 85-86, 2000 Jan 3.
  12. Kondo S, Tomita H-A, Kishino T, Yoshiura K, Yamada K, Soeda E, Matsumoto N, Ohta T, Fujii T, Niikawa N. A 1.5-Mb PAC/BAC contig spanning the Prader-Willi syndrome critical region (PWCR). Acta Med Nagasaki 45(1-2): 43-46, 2000.
  13. Nagai T, Matsuo N, Kayanuma Y, Tonoki H, Fukushima Y, Ohashi H, Murai T, Hasegawa T, Kuroki Y, Niikawa N. Standard growth curves for Japanese patients with Prader-Willi syndrome. Am J Med Genet 95(2): 130-134, 2000 Nov 13.
  14. Uotani S, Yamasaki H, Takino H, Kawasaki E, Matsuo H, Yamasaki S, Jinno Y, Niikawa N, Ito M, Sugie H, Yamaguchi Y, Eguchi K. Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa. J Inherit Metab Dis 23(5): 527-528, 2000 Jul.
  15. Hayashida S, Yamasaki K, Asada Y, Soeda E, Niikawa N, Kishino T. Construction of a physical and transcript map flanking the imprinted MEST/PEGl region at 7q32. Genomics 66(2): 221-225, 2000 Jul 2.
  16. Tsuda M, Egashira M, Niikawa N, Wada Y, Honke K. Cancer-associated alternative usage of multiple promoters of human GalCer sulfotransferase gene. Eur J Biochem 267(9): 2672-2679, 2000 May.
  17. Ghadami M, Tomita HA, Najafi MT, Yamada K, Maiidzadeh-A K, Niikawa N. Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization. Am J Med Genet 94(5): 433-437, 2000 Oct 23.
  18. Coehlo K-E, Sarmento MV, Veiga CM, Speck-Martins CE, Safatle HPN, Castro CA, Niikawa N. Misoprostol embryotoxicity: Clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet 95(4): 297-301, 2000 Dec 11.
  19. Yamasaki K, Hayashida S, Miura K, Masuzaki H, Ishimaru T, Niikawa N. The novel gene, g2-COP, in the 7q23 imprinted domain escape genomic imprinting. Genomics 68(3): 330-335, 2000 Sep 15.