Matsumoto N - Search Results

1

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Osaka H, et al. Among authors: matsumoto n. Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022. Ann Neurol. 2010. PMID: 20695017

2

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.

Yamamoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K. Yamamoto T, et al. Among authors: matsumoto n. Am J Med Genet A. 2006 Jan 1;140(1):88-91. doi: 10.1002/ajmg.a.31055. Am J Med Genet A. 2006. PMID: 16333830

3

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.

Hamanoue H, Umezu N, Okuda M, Harada N, Ohata T, Sakai H, Mizuguchi T, Ishikawa H, Takahashi T, Miura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: matsumoto n. J Hum Genet. 2006;51(5):477-479. doi: 10.1007/s10038-006-0388-3. Epub 2006 Mar 17. J Hum Genet. 2006. PMID: 16544049

4

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura KI, Fukushima Y, Ikeda SI, Matsumoto N. Ohata T, et al. Among authors: matsumoto n. J Hum Genet. 2006;51(5):461-466. doi: 10.1007/s10038-006-0385-6. Epub 2006 Apr 14. J Hum Genet. 2006. PMID: 16614795

5

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

Yamamoto T, Sameshima K, Sekido K, Aida N, Matsumoto N, Naritomi K, Kurosawa K. Yamamoto T, et al. Among authors: matsumoto n. Am J Med Genet A. 2006 Jun 15;140(12):1302-4. doi: 10.1002/ajmg.a.31297. Am J Med Genet A. 2006. PMID: 16691595

6

Congenital neuroblastoma in a patient with partial trisomy of 2p.

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. Dowa Y, et al. Among authors: matsumoto n. J Pediatr Hematol Oncol. 2006 Jun;28(6):379-82. doi: 10.1097/00043426-200606000-00011. J Pediatr Hematol Oncol. 2006. PMID: 16794507

7

Neuroradiologic findings in Sotos syndrome.

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. Horikoshi H, et al. Among authors: matsumoto n. J Child Neurol. 2006 Jul;21(7):614-8. doi: 10.1177/08830738060210071001. J Child Neurol. 2006. PMID: 16970856

8

Angelman syndrome caused by an identical familial 1,487-kb deletion.

Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: matsumoto n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.

9

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.

Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. Nishimura A, et al. Among authors: matsumoto n. Am J Med Genet A. 2007 Apr 1;143A(7):694-8. doi: 10.1002/ajmg.a.31639. Am J Med Genet A. 2007. PMID: 17345643

10

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

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, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: matsumoto n. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469812

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