PUBLICATIONS

業績

2009

  • Matsumoto N. Gene analysis of Marfan syndrome. Proceedings of VIII annual international symposium on advances in understanding aortic diseases. 23-27, 2009
  • Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N, Katsuya Nakamura K, Tazawa K-i, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S-i. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Japan. Cerebellum 8:46-51, 2009.
  • Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Fumiki H, Matsumoto N. A locus for Ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet 149A(3): 336-342, 2009.
  • Kuniba H, Yoshiura KI, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet 54(5): 304-309, 2009
  • Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss. Am J Med Genet 149A(6):1224-1230, 2009.
  • Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, Tokunaga J, Ohno T, Miyashita A, Kuwano R, Matsumoto N, Onodera O, Nishizawa M, *Ikeuchi T. Identification of Independent APP Locus Duplication in Japanese Patients with Early-Onset Alzheimer’s Disease. J Neurol Neurosurg Psychiatry 80(9): 1050-1052, 2009.
  • Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J, Yokoyama U, Mizuguchi T, Saitsu H, Hirahara F, Matsumoto N. Gene screening of 104 patients with congenital heart disease revealed a fresh GATA4 mutation in atrial septal defect. Cardiol Young 19: 482-485, 2009.

2008

  • Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S-i, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40(6): 782-788, 2008
  • Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane’s retraction syndrome. Science 321 (5890): 839-843, 2008
  • Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, Niikawa N, Yoshiura K. A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region. Am J Med Genet: 146A (1): 124-127, 2008
  • Yamada-Okabe T, Matsumoto N. Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein (NSD1) o r fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2 (SET2). Cell Biochemistry and Function 26:146-150, 2008
  • Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Two New Cases of Pure 1q Terminal Deletion Presenting With Brain Malformations. Am J Med Genet A 146A: 1241-1247, 2008
  • Paez M, Yamamoto T, Hayashi K-i, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits. Am J Med Genet A 146A: 1158-1165, 2008
  • Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y. De novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin Dysmorphol 17(1):31-34, 2008.
  • Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Craniosynostosis in a patient with a de novo 15q15-q22 deletion. Am J Med Genet 146A(11): 1462-1465, 2008
  • Mochizuki J, Saitsu H, Mizuguchi M, Visser R, Miyake N, Unno N, Matsumoto N. Alu-related 5q35 microdeletions in Sotos syndrome. Clin Genet 74:384-391, 2008.
  • Ozeki Y, Mizuguchi T, Hirabayashi N, Ogawa M, Ohmura N, Moriuchi M, Harada N, Matsumoto N, Kunugi H. A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP22. The Open Psychiatry Journal 2:1-4, 2008
  • Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K-i, Niikawa N. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. J Med Genet 45(7):479-80, 2008
  • Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuch Y, Matsumoto N. CDKL5 disruption by t(X;18) in a girl with West syndrome. Clin Genet 74:288-290, 2008
  • Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K. Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1. Am J Med Genet A 160A: 1575-1580, 2008
  • Kuniba H, Sato D, Yoshiura KI, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome. Am J Med Genet A 146A(11):1893-1896, 2008.
  • Mizuguchi T, Hashimoto R, Itokawa M, Sano A, Shimokawan O, Yoshimura Y, Harada N, Miyake N, Nishimura A, Saitsu H, Sosonkina N, Niikawa N, Kunugi H, Matsumoto N. Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia. J Hum Genet 53:914-919, 2008.
  • Watanabe Y, Sakai H, Nishimura A, Miyake N, Saitsu H, Mizuguchi T, Matsumoto N. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet A 146A: 3070-3074, 2008.
  • Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K-I, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncampaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. Am J Med Genet A 146A: 2891-2897, 2008
  • Visser R, Matsumoto N. NSD1 and Sotos syndrome: 1032-1037, Inborn Errors of Development 2nd Edition. Edited by Epstein C, Erickson R, and Wynshaw-Boris A. Oxford University Press, Inc. 2008.

2007

  • Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi M, Matsumoto N. Angelman syndrome caused by an identical familial 1487-kb deletion. Am J Med Genet 143A(1): 98-101, 2007.
  • Mizuguch T, Matsumoto N. Recent advance in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52(1): 1-12, 2007.
  • Yamasaki-Ishizaki Y, Kayashima T, Christophe M, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T. Role of DNA methylation and histone H3 Lysine 27 methylation in tissue-specific imprinting of mouse Grb10. Mol Cell Biol 27(2):732-742, 2007.
  • Nakashima M, Takamura N, Namba H, Saenko V, Meirmanov S, Matsumoto N, Hayashi T, Maeda S, Sekine I. RET oncogene amplification in thyroid cancer: correlations with radiation-associated and high-grade malignancy. Hum Pathol 38(4): 621-628, 2007.
  • Sato D, Shimokawa O, Harada N, Olsen5 OE, Hou J-W, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Congenital Arhinia: Molecular-genetic Analysis of Five Patients. Am J Med Genet 143A(6):546-552, 2007.
  • Nishimura A, Sakai H, Ikegawa S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet 143A(7):694-698, 2007.
  • Sosonkina N, Miyake N, Harada H, Starenki D, Ohta T, Fukushima Y, T Kosho, Niikawa N, Matsumoto N. Less frequent NSD1-intragenic deletions in Japanese Sotos syndrome: Analysis of 30 patients by NSD1-exon array CGH, quantitative fluorescent duplex PCR, and fluorescence in situ hybridization. Acta Medica Nagasakiensia 52:29-34, 2007.
  • Togashi Y, Sakoda H, Nishimura A, Matsumoto N, Hiraoka H, Matsuzawa Y. A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. Internal Medicine 2007;46(24):1995-2000, 2007

2006

  • Kurotaki N, Matsumoto N. Sotos syndrome. Genomic disorders: The genomic basis of disease: 237-246, 2006. Edited by Lupski JR and Stankiewicz PT. The Humana Press Inc, Totowa, NJ, USA
  • Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N. Nevo syndrome : a variant of Sotos syndrome? Am J Med Genet 140A(1): 70-73, 2006
  • Yamomoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K. A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies. Am J Med Genet 140A(1):88?91, 2006.
  • 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-H, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki T, Nomura M, Yoshiura K-I, Kishino T, Ohta T, Niikawa N, Matsumoto N. No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome. Am J Med Genet 140A(3): 291-293, 2006.
  • 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-I, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet 140A (3): 205-211, 2006.
  • Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi M, Matsumoto N. Narrowing Candidate Region for Monosomy 9p Syndrome to a 4.7-Mb Segment at 9p22.2-p23. Am J Med Genet 140A (4): 373-377, 2006.
  • 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.
  • Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Fukushima Y, Ikeda S, Matsumoto N. The prevalent ?16C>T change at the 5’ UTR of the puratropin-1 gene in autosomal dominant cerebellar ataxia in Nagano. J Hum Genet 51(5): 461-466, 2006.
  • Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura K-i, 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.
  • Hamanoue H, Umezu N, Okuda M, Harada H, Sakai H, Mizuguchi T, Ishikawa H, Takahashi T, Miura K, Hirahara F, Matsumoto N Complete Hydatidiform Mole and Normal Live Birth after Intracytoplasmic Sperm Injection. J Hum Genet 51(5): 477-479, 2006.
  • Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Alain Verloes A, Okamoto N, Hennekam RCM, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nat Genet 38(3): 294-296, 2006.
  • Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Birk OS, 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.
  • Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome o r Marfan related phenotypes. Am J Med Genet 140A: 1719-1725, 2006.
  • Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi M, Niikawa N, Matsumoto N. Array Comparative Genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal’ karyotypes. Am J Med Genet 140A(18): 1931-1935, 2006.
  • Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N. Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1). Am J Med Genet 140A(16): 1773-1777, 2006.
  • Yamamoto T, Sameshima K, Sekido KI, Aida N, Matsumoto N, Naritomi K, Kurosawa K. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. Am J Med Genet 140A(12): 1302-1304, 2006.
  • Miura S, Miura K, Yamamoto T, Yamanaka M, Saito K, Hirabuki T, Kurosawa K, Harada N, Ishizaki-Yamasaki Y, Matsumoto M, Hirahara F, Yoshiura K, Masuzaki M, Niikawa N. Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses. Am J Med Genet 140A(16): 1737-1743, 2006.
  • Dowa Y, Yamamoto T, Abe Y, Kobayashi M, Hoshino R, Tanaka K, Aida N, Take H, Kato K, Tanaka Y, Ariyama J, Harada N, Matsumoto N, Kurosawa K. Congenital neuroblastoma in a patient with partial trisomy of 2p. J Pediatr Hematol Oncol 28(6): 379-382, 2006.
  • Horikoshi H, Kato Z, Masuno M, Asano T, Nagase T, Yamagishi Y, Kozawa R, Arai T, Aoki M, Teramoto T, Omoya K, Matsumoto N, Kurotaki N, Shimokawa O, Kurosawa K, Kondo N. Neuroradiologic findings in sotos syndrome. J Child Neurol 21(7):614-618, 2006.

2005

  • Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Identification of a 3.0-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion. Am J Hum Genet 76(1):52-67, 2005
  • Miyake N, Harada N, Okamoto N, Sonoda T, Naritomi K, Chinen Y, Kaname T, Tonoki H, Kondoh T, Kurosawa K, Visser R, Kinoshita A, Yoshiura K-I, Niikawa N, Matsumoto N. Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome. Am J Med Genet 135A(1):103-105, 2005
  • Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino K, Ohta T, Visser R, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet 136A(1):49-51, 2005
  • Jin Z-B, Liu X-Q, Uchida A, Vervoort R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-I N. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. Mol Vis 11:535-541, 2005
  • Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Genet Med 7(8): 524-533, 2005
  • Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 20(3): 194-200, 2005.
  • Kosaki R, Kosaki K, Matsushima K, Mitsui N, Matsumoto N, Ohashi H. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenit Anom 45(2):62-64, 2005.
  • Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions. J Med Genet 42 (11): e66, 2005
  • Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura KI, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. Hum Mol Genet 14(17): 2511-2520, 2005
  • Machida H, Tsukamoto K, Wen CY, Shikuwa S, Isomoto H, Mizuta Y, Takeshima F, Murase K, Matsumoto N, Murata I, Kohno S, Wen CY. Crohn’s disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene. World J Gastroenterol 11(31): 4833-4837, 2005.
  • Okamoto N, Hatsukawa Y, Shiraishi J, Harada N, Matsumoto N. Chromosome 1q deletion and congenital glaucoma. Pediatr Int 47(4): 477-479, 2005.
  • Takahira S, Kondoh T, Sumi M, Tagawa M, Obatake M, Kinoshita E, Shimokawa O, Harada N, Miyake N, Matsumoto N, Moriuchi H. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? Am J Med Genet 138A (3):297-299, 2005.

2004

  • Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K-i, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36(8): 855-860, 2004
  • Miyoshi Y, Taniike M, Mohri I, Mushiake S, Nakajima S, Matsumoto N, Ozono K. Hormonal and genetical assessment of a Japanese girl with Weaver syndrome. Clin Pediatr Endcrinol 13(1):17-23, 2004
  • 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: A Rapid Detection System for Cryptic Rearrangements in Idiopathic Mental Retardation. J Med Genet 41: 130-136, 2004
  • 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
  • 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
  • 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 127A(1):54-57, 2004
  • Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Molecular Dissection of Inverted Duplication 8p23. Am J Med Genet 128A(2):133-137, 2004
  • Miyake N, Harada N, Shimokawa S, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K-i, 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 128A(2):170-172, 2004
  • Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 49:80-86, 2004
  • Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa S, 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
  • 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
  • Kurosawa K, Harada N, Saitoh S, Sosonkina N, Niikawa N, Matsumoto N. Unmasking 15q12 Deletion Using Microarray-based Comparative Genomic Hybridization in a Mentally Retarded Boy With r(Y). Am J Med Genet 130A(3): 322-324, 2004
  • Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. A 1-Mb critical region in 6 patients with 9q34.3 terminal deletion syndrome. J Hum Genet 49(8):440-444, 2004
  • Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita K, Yoshiura K.-i., 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

2003

  • Yamada K, Andrews C, Chan W-M, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O’Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Lisa Morris, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Blaine L Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi BI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 35 (4): 318-321, 2003
  • Visser R, Matsumoto N. Genetics of Sotos syndrome (Invited review). Curr Opin Pediatr 15(6):598-606, 2003
  • Matsumoto N, Niikawa N. Kabuki Make-up Syndrome: A Review. Am J Med Genet 117C(1):57-65, 2003
  • Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai N, Ozaki T, Touyama T, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mut 22(5):378-387, 2003
  • Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Identification of 8 novel NSD1 mutations in Sotos syndrome. J Med Genet 40: e126, 2003
  • Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Complex low copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82(2):238-44, 2003
  • Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N. Functional Disomy for Xq22-q23 in a Girl with Complex Rearrangements of Chromosomes 3 and X. Am J Med Genet 120A:557?561, 2003
  • Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T. Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. Genomics. 81(6):644-647, 2003
  • Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N. Inv dup del(4)(:p14->p16.3::p16.3->qter) With Manifestations of Partial Duplication 4p and Wolf-Hirschhorn Syndrome. Am J Med Genet 120A(1): 123-126, 2003
  • Saenko V, Rogounovitch T, Shimizu-Yoshida Y, Abrosimov A, Lushnikov E, Roumiantsev P, Matsumoto N, Nakashima M, Meirmanov S, Ohtsuru A, Namba H, Tsyb A, Yamashita S. Novel tumorigenic rearrangement, ?rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient. Mutat Res 527(1-2):81-91, 2003 (A section of fundamental and molecular mechanisms of mutagenesis)
  • Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara T, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Preferential paternal origin of microdeletion caused by prezygotic chromosome o r chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2(5):1331-1337, 2003
  • Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura KI, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain. Hum Genet 112(3):220-226, 2003
  • Nagai T, Matsumoto N, Ogata T, Kurotaki N, Imaizumi K, Kurosawa K, Harada N, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Niikawa N, Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 40(4): 285-289, 2003
  • Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto M. Familial Sotos syndrome is caused by a novel one base pair deletion of the NSD1 gene. J Med Genet 40 (1):51-54, 2003
  • Sonoda T, Kouno K, Sawada K, Takagi J, Nunoi H, Harada N, Matsumoto N. A dup(22)(q11.22-q11.23) without coloboma and cleft lip o r palate. Pediatr Int 45(1):97-99, 2003
  • Broman KW, Matsumoto N, Giglio S, Martin CL, Roseberry JA, Zuffardi O, Ledbetter DH, Weber JL. Common long human inversion polymorphism on chromosome 8p. In: Goldstein DR (ed) Science and Statistics: A Festschrift for Terry Speed. IMS Lecture Notes-Monograph Series 40: 237-245, 2003.

2002

  • 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). J Hum Genet 47 (2): 77-79, 2002
  • 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, Yosiura K-i. 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.
  • 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 genetics 3 (1):3 2002
  • 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):226-8, 2002.
  • Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of the NSD1 gene causes Sotos syndrome. Nat Genet 30 (4): 365-366, 2002
  • Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K-I, 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
  • Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, D’Urso M, Rinaldi MM, Ventruto V, 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
  • 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 IGF1R? Am J Med Genet 113(2):173-177, 2002.
  • 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.
  • 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
  • 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 Genet 47 (10): 556-559, 2002.
  • Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K.-i. 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
  • 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
  • Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yosiura K-i. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-b1 (TGF-b1) and its signaling pathway. J Hum Genet 47 (9): 478-483, 2002

2001

  • Simonic I, Nyholt DR, Gericke GS, Gordon D, Matsumoto N, Ledbetter DH, Ott J, Weber JL: 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
  • 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.
  • Giglio S, Broman SW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire V, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O: Olfactory receptor (OR) gene clusters, genomic inversion polymorphisms and common chromosome rearrangements. Am J Hum Genet 68(4):874-883, 2001.
  • 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.
  • 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):63-67, 2001.
  • 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
  • Kurotaki N, Harada N, Yoshiura K-I, Kishino T, Sugano S, Niikawa N, Matsumoto N: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 279 (2): 197-204, 2001

2000-1995

  • 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 aniridia families: case report and review of the literature. Eur J Ophthalmol 10 (1): 167-172, 2000
  • Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB: Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today 6(7):277-284, 2000.
  • Matsumoto N, David DE, Johnson EW, Konecki D, Burmester JK, Ledbetter DH, Weber JL: Breakpoint Sequences of an 1;8 translocation in a family with Gilles de la Tourette Syndrome. Eur J Hum Genet 8(11): 875-883, 2000.
  • 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 malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9(20):3019-3028, 2000
  • Kondo S, Tomita H-A, Kishino T, Yoshiura K-I, 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.
  • 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.
  • Matsumoto N, Pilz DT, Ledbetter DH: Genomic Structure, Chromosome Mapping, and Expression Pattern of the human DCAMKL1 gene, a homologue of DCX. Genomics 56(2): 179-183, 1999
  • Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ: Defferences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 53 (2): 270-277, 1999
  • Matsumoto N, Ledbetter DH: Molecular cloning and characterization of the human NUDC gene. Hum Genet 104(6): 498-504, 1999
  • Pilz DT, Kuc J, Matsumoto N, Bordurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) o r LIS1. Hum Mol Genet 8 (9):1757-1760, 1999
  • Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH: Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. J Med Genet 35(10):829-832, 1998.
  • Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME: LIS1 and XLIS (DCX) mutations cause most human classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7(13): 2029-2037, 1998.
  • Matsumoto N, Ohashi H, Kato R, Fujimoto M, Tsujita T, Sasaki T, Nakano M, Miyoshi O, Fukushima Y, Niikawa N: Molecular Mapping of a Translocation Breakpoint at 14q13 in a Patient with Mirror-Image Polydactyly of Hands and Feet. Hum Genet 99(4):450-453, 1997
  • Kato R, Matsumoto N, Niikawa N: Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3. Jpn J Hum Genet 42(1): 213-216, 1997.
  • Matsumoto N, Ohashi H, Tsukahara M, Kim K-C, Soeda E, Niikawa N: Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. Am J Hum Genet 60(4):997-999, 1997.
  • Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N: A 1.2-Megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2;14) in a mirror-image polydactyly patient. Genomics 45(1):11-16, 1997.
  • Fujimoto M, Matsumoto N, Tsujita T, Tomita H, Kondo S, Miyake N, Nakano M, Niikawa N: Characterization of the promoter region, first 10 exons and 9 intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7). DNA Res 4(2): 151-154, 1997.
  • Kato R, Matsumoto N, Nakano M, Fujimoto M, Soeda E, Nakamura Y, Niikawa N: FISH mapping of a translocation breakpoint at 6q21 (o r 6q22) in a patient with heterotaxi. Jpn J Hum Genet 42(4): 525-532, 1997.
  • Watanabe Y, Matsumoto N, Ohta T, Tsujita T, Jinno Y, Komatsu K, Niikawa N: Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation. . Jpn J Hum Genet 41(1):149-158, 1996.
  • Soejima H, Fujimoto M, Tsukamoto K, Matsumoto N, Yoshiura K, Fukushima Y, Jinno Y, Niikawa N: Three novel PAX3 mutations observed in patients with Waardenburg syndrome type I. Hum Mutat 9(2):177-180, 1997
  • Matsumoto N, Fujimoto M, Kato R, Niikawa N: Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. Genomics 36(1): 220-221, 1996.
  • Sasaki T, Matsumoto N, Jinno Y, Niikawa N, Sakai H, Kanetake H, Saito Y: Assignment of the human b-microseminoprotein gene (MSMB) to chromosome 10q11.2. Cytogenet Cell Genet 72(2-3):177-178, 1996.
  • Coelho K-E FA, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N: Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. Am J Med Genet 63(3):468-471, 1996.
  • Watanabe Y, Matsumoto N, Ohta T, Tsujita T, Jinno Y, Komatsu K, Niikawa N: Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation. . Jpn J Hum Genet 41(1):149-158, 1996.
  • Kobayashi T, Kawaguchi T, Kishino T, Matsumoto N, Niikawa N, Mori M, Levan G, Hino O: Isolation of microdissection clones from rat chromosome 10. Mamm Genome 6(3): 216-218, 1995.
  • Matsumoto N, Saitoh N, Harada N, Tanaka K, Niikawa N: DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample. Prenat Diag 15(7):675-677, 1995.
  • Nonomura K, Matsumoto N, Yoshimura J, Niikawa N, Iwata N: Chromosome 4-specific DNA library of rice by microdissection technique. Rice Genet Newslet 11: 180-182, 1995.
  • Matsumoto N, Mikawa M, Niikawa N: Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11). Am J Med Genet 59(4):521-522, 1995.