Yoshiura K - Search Results

1

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.

Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. Kayashima T, et al. Among authors: yoshiura k. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318

2

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: yoshiura k. J Hum Genet. 2002;47(2):77-9. doi: 10.1007/s100380200004. J Hum Genet. 2002. PMID: 11916006

3

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: yoshiura k. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

4

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: yoshiura ki. Gene. 2002 Apr 17;288(1-2):57-63. doi: 10.1016/s0378-1119(02)00428-6. Gene. 2002. PMID: 12034494

5

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: yoshiura k. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731

6

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: yoshiura k. J Hum Genet. 2002;47(8):395-9. doi: 10.1007/s100380200057. J Hum Genet. 2002. PMID: 12181639

7

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: yoshiura k. J Hum Genet. 2002;47(9):478-83. doi: 10.1007/s100380200069. J Hum Genet. 2002. PMID: 12202987

8

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.

Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N. Shotelersuk V, et al. Among authors: yoshiura k. Int J Mol Med. 2003 Apr;11(4):505-7. Int J Mol Med. 2003. PMID: 12632105

9

Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.

Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T. Kayashima T, et al. Among authors: yoshiura k. Genomics. 2003 Jun;81(6):644-7. doi: 10.1016/s0888-7543(03)00077-6. Genomics. 2003. PMID: 12782135

10

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, 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 JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: yoshiura k. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949

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