Wakui K - Search Results

1

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Kurotaki N, et al. Among authors: wakui k. Hum Mol Genet. 2005 Feb 15;14(4):535-42. doi: 10.1093/hmg/ddi050. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640245

2

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Stankiewicz P, et al. Among authors: wakui k. Am J Hum Genet. 2003 May;72(5):1101-16. doi: 10.1086/374385. Epub 2003 Mar 20. Am J Hum Genet. 2003. PMID: 12649807 Free PMC article.

3

A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p.

Ohashi H, Wakui K, Ogawa K, Okano T, Niikawa N, Fukushima Y. Ohashi H, et al. Among authors: wakui k. Am J Hum Genet. 1994 Dec;55(6):1202-8. Am J Hum Genet. 1994. PMID: 7977381 Free PMC article.

4

Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization.

Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N. Fukushima Y, et al. Among authors: wakui k. Hum Genet. 1993 Apr;91(3):205-9. doi: 10.1007/BF00218257. Hum Genet. 1993. PMID: 8478003

5

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha. Ghadami M, et al. Among authors: wakui k. Am J Hum Genet. 2000 Jan;66(1):143-7. doi: 10.1086/302728. Am J Hum Genet. 2000. PMID: 10631145 Free PMC article.

6

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura KI, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: wakui k. J Hum Genet. 2004;49(7):360-365. doi: 10.1007/s10038-004-0158-z. Epub 2004 Jun 18. J Hum Genet. 2004. PMID: 15221640

7

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: wakui k. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308

8

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Tomita Ha, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N. Tomita Ha, et al. Among authors: wakui k. Am J Hum Genet. 1999 Dec;65(6):1688-97. doi: 10.1086/302682. Am J Hum Genet. 1999. PMID: 10577923 Free PMC article.

9

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.

Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N. Yamada K, et al. Among authors: wakui k. Eur J Hum Genet. 2000 Jul;8(7):535-9. doi: 10.1038/sj.ejhg.5200485. Eur J Hum Genet. 2000. PMID: 10909854

10

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG. Ballif BC, et al. Among authors: wakui k. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

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