業績

2002年業績
  1. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegaea T, Chinen Y, Tomita H-a, Muzuguchi T, Yoshiura K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genet 30(4): 365-366, 2002 Apr.
  2. Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Fujimoto S, Niikawa N, Kishino T. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. Gene 288(1-2): 57-63, 2002 Apr 17.
  3. Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Duplication of 8p23.2: A benign cytogenetic variant? Am J Med Genet 111(3): 285-288, 2002 Aug 15.
  4. Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. J Hum Genet 47(9): 478-483, 2002.
  5. Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 47(8): 395-399, 2002.
  6. Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. Am J Med Genet 111(1): 38-42, 2002 Jul 22.
  7. Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Fujimoto S, Niikawa N, Kishino T. The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. Gene 288(1-2): 57-63, 2002 Apr 17.
  8. Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. J Med Genet 39(7): E34, 2002 Jul.
  9. Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 47(3): 136-139, 2002.
  10. Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). (2002) J Hum Genet 47(2): 77-79.
  11. Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins MLZ, Morris L, Monte MD, Magli A, de Berardinis T. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet 3: 3, 2002.
  12. Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35; q24.1). Am J Med Genet 107(1): 58-60, 2002 Jan 1.
  13. Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N. Cainurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet 107(1): 5-11, 2002 Jan1.
  14. Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N. A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? Am J Med Genet 109(1): 56-60, 2002 Apr 15.
  15. Nagai T, Shimokawa O, Harada N, Sakazume S, Ohashi H, Matsumoto N, Obata K, Yoshino A, Murakami N, Murai T, Sakuta R, Niikawa N. Postnatal Overgrowth by 15q-trisomy and IUGR by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGFIR? Am J Med Genet 113(2): 173-177, 2002 Nov 22.  
  16. Ida T, Harada N, Abe K, Kondoh T, Yoshinaga M, Maki T, Niikawa N. Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting. Am J Med Genet 108(3): 182-186, 2002 Mar15.
  17. Harada N, Nagai T, Shimokawa O, Niikawa N, Matsumoto N. A 4q21-q22 deletion in a girl with severe growth retardation. Clin Genet 61(3): 22-68, 2002 Mar.
  18. Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N. A dominantly inherited alformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family. Am J Med Genet 111(3): 301-306, 2002 Aug15.
  19. Harada N, Shimokawa O, Nagai T, Kato R, Kondoh T, Niikawa N, Matsumoto N. A 4-Mb critical region for IUGR at 15q26. Clin Genet 62(4): 340-342, 2002 Oct.
  20. Nonomura K, Kakizaki H, Fukuzawa N, Fujieda K, Harada N, Niikawa N, Koyanagi T. Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic (Y),idic (Y) / 46,X,idic (Y) / 45,X. Endocr J 49(4): 497-501, 2002 Aug. 
  21. Miyamoto T, Hasuike S, Jinno Y, Soejima H, Yun K, Miura K, Ishikawa M, Niikawa N. The human ASCL2 gene escaping genomic imprinting and its expression pattern. J Assist Reprod Genet 19(5): 240 244, 2002 May. 
  22. Katahira M, Kayashima T, Kishino T, Niikawa N. Maternal uniparental disomy for chromosome 14 with diabetes mellitus. Internal Med 41(9): 717-721, 2002 Sep.
  23. Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N. A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. J Hum Genet47(10): 556-559, 2002.  
  24. Tomita H, Yamada K, Ghadami M, Ogura T, Yanai Y, Nakatomi K, Sadamatsu M, Masui A, Kato N, Niikawa N. Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. Lancet 8;359(9322):2000-2002, 2002