Niikawa N - Search Results

1

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: niikawa n. Int J Mol Med. 2003 Apr;11(4):505-7. Int J Mol Med. 2003. PMID: 12632105

2

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: niikawa n. 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

3

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K. Matsuzawa N, et al. Among authors: niikawa n. J Dent Res. 2006 Dec;85(12):1143-6. doi: 10.1177/154405910608501215. J Dent Res. 2006. PMID: 17122170

4

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K. Matsuzawa N, et al. Among authors: niikawa n. Am J Med Genet A. 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338. Am J Med Genet A. 2010. PMID: 20803643

5

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.

Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura KI. Ichikawa E, et al. Among authors: niikawa n. J Hum Genet. 2006;51(1):38-46. doi: 10.1007/s10038-005-0319-8. Epub 2005 Oct 25. J Hum Genet. 2006. PMID: 16247549

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

7

Phenotype-genotype correlation in two patients with 12q proximal deletion.

Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: niikawa n. J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5. J Hum Genet. 2004. PMID: 15362574

8

[Positional cloning of disease gene].

Yoshiura K, Niikawa N. Yoshiura K, et al. Among authors: niikawa n. Nihon Rinsho. 2005 Dec;63 Suppl 12:421-6. Nihon Rinsho. 2005. PMID: 16416827 Review. Japanese. No abstract available.

9

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.

Watanabe A, Akita S, Tin NT, Natsume N, Nakano Y, Niikawa N, Uchiyama T, Yoshiura K. Watanabe A, et al. Among authors: niikawa n. Cleft Palate Craniofac J. 2006 May;43(3):310-6. doi: 10.1597/04-145.1. Cleft Palate Craniofac J. 2006. PMID: 16681403

10

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.

Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N. Kikuchi T, et al. Among authors: niikawa n. J Hum Genet. 2007;52(4):334-341. doi: 10.1007/s10038-007-0116-7. Epub 2007 Feb 14. J Hum Genet. 2007. PMID: 17387577

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