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Publication 2001
  1. Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 279(2): 197-204, 2001 Nov28.
  2. Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura K, Niikawa N. Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. Am J Med Genet 104: 147-151, 2001 Nov22.
  3. Saito T, Kinoshita A, Yoshiura K, Makita Y, Wakui K, Honke K, Niikawa N. Taniguchi N. Domain-specific Mutations of a Transforming Growth Factor (TGF)-beta 1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-beta 1. J Biol Chem 276: 11469-11472, 2001.
  4. Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene, Neurology 57(2): 327-330, 2001 Jul 24.
  5. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber IL, Ledbetter DH, Zuffardi O. Olfactory receptor gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68(4): 874-883, 2001 Apr.
  6. Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. Am J Med Genet 104(4): 319-322, 2001 Dec 15.
  7. Katsuren K, Tamura T, Arashiro R, Takata K, Matsuura T, Niikawa N, Ohta T. Structure of the human acylCoA:cholesterol acyltransferase-2 (ACAT-2) gene and its relation to dyslipidemia. Biochim Biophys Acta 1531(3): 230-240, 2001 Apr 30.
  8. Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Nantomi K, Kinoshita El, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko Ishino T, Ishino F. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet 104(3): 225-231, 2001 Dec1.
  9. Kondoh T, Yamamoto T, Kono Y, Matsumoto T, Sugawara H, Matsumoto N, Moriuchi H. Condition of microcephaly, growth retardation, join contracures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomal recessive MCR/MR syndrome? Am J Med Genet 102(1): 1-5, 2001 July 22.
  10. Lüdecke H-I, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen H-I, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship THJ, Greiwe M, Hamm H, Hennekam RCM, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Seitz C, Schmidtke J, Tankahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 68(1): 81-91, 2001 Jan.
  11. Matsuda I, Niikawa N, Sato K, Suzumori K, Fukushima Y, Fujiki N, Kanazawa I, Nakamura Y, Yonemoto S, Nakagome Y. Guidelines for genetic testing. The Japan Society of Human Genetics, Council Committee of Ethics. J Hum Genet 46(3): 163-165, 2001.
  12. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 9(1): 5-12, 2001 Jan.
  13. Miwa N, Furuse M, Tsukita S, Niikawa N, Nakamura Y, Furukawa Y. Involvement of claudin I in the beta catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers. Oncol Res 12(11-12): 469-676, 2001.
  14. Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N. Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1. Am J Med Genet 104(1): 250-256, 2001 Dec1.
  15. Ono T, Kurashige T, Harada N, Noguchi Y, Saika T, Niikawa N, Aoe M, Nakamura S, Higashi T, Hiraki A, Wada H, Kumon H, Old LJ, Nakayama E. Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen. Proc Natl ACad Sci USA 98(6): 3282-3287, 2001 Mar13.
  16. Simonic I, Nyholt DR, Gericke GS, Gordon D, Matsumoto N, Ledbetter DH, Ott J, Weber IL. Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. Am J Med Genet 105(2): 163-167, 2001 Mar 8.
  17. Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka T, Matsuo S, Niikawa N, Kimura A, Okubo K, Mukai T. Isolation of novel heart-specific genes using the BodyMap database. Genomics 74(1): 115-120, 2001 Mar 15.
  18. Uehara S, Hanew K, Harada N, Yamamori S, Nata M, Niikawa N, Okamura K. Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature. Am J Med Genet 99(3): 196-199, 2001 Mar 15.
  19. Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T. Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. Am J Med Genet 100(1): 52-55, 2001 Apr 15.
  20. Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naoi N. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked Tetinitis pigmentosa. Am J Med Genet 104(3): 232-238, 2001 Dec1.