Matsumoto N - Search Results

1

Molecular characterization of inv dup del(8p): analysis of five cases.

Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Shimokawa O, et al. Among authors: matsumoto n. Am J Med Genet A. 2004 Jul 15;128A(2):133-7. doi: 10.1002/ajmg.a.30063. Am J Med Genet A. 2004. PMID: 15214003

2

Haploinsufficiency of NSD1 causes Sotos syndrome.

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 Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: matsumoto n. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389

3

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Kayashima T, et al. Among authors: matsumoto n. J Hum Genet. 2002;47(2):77-9. doi: 10.1007/s100380200004. J Hum Genet. 2002. PMID: 11916006

4

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

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. Kondoh S, et al. Among authors: matsumoto n. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

5

The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.

Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura Ki, Matsumoto N, Fujimoto S, Niikawa N, Kishino T. Yamada T, et al. Among authors: matsumoto n. Gene. 2002 Apr 17;288(1-2):57-63. doi: 10.1016/s0378-1119(02)00428-6. Gene. 2002. PMID: 12034494

6

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.

Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Kayashima T, et al. Among authors: matsumoto n. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731

7

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Komatsu K, et al. Among authors: matsumoto n. J Hum Genet. 2002;47(8):395-9. doi: 10.1007/s100380200057. J Hum Genet. 2002. PMID: 12181639

8

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.

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K. Watanabe Y, et al. Among authors: matsumoto n. J Hum Genet. 2002;47(9):478-83. doi: 10.1007/s100380200069. J Hum Genet. 2002. PMID: 12202987

9

Duplication of 8p23.2: a benign cytogenetic variant?

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. Harada N, et al. Among authors: matsumoto n. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324

10

Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?

Nagai T, Shimokawa O, Harada N, Sakazume S, Ohashi H, Matsumoto N, Obata K, Yoshino A, Murakami N, Murai T, Sakuta R, Niikawa N. Nagai T, et al. Among authors: matsumoto n. Am J Med Genet. 2002 Nov 22;113(2):173-7. doi: 10.1002/ajmg.10717. Am J Med Genet. 2002. PMID: 12407708

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