Yoshiura K - Search Results

1

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa N. Matsuzawa N, et al. Among authors: yoshiura k. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Oct;98(4):414-7. doi: 10.1016/j.tripleo.2003.12.034. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004. PMID: 15472655

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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Komatsu K, Kinoshita A, Najafi MT, Niikawa N, Yoshiura K. Ghadami M, et al. Among authors: yoshiura k. Am J Med Genet A. 2004 Jun 15;127A(3):307-9. doi: 10.1002/ajmg.a.30025. Am J Med Genet A. 2004. PMID: 15150785

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