Wakui K - Search Results

1

De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1.

Wakui K, Nishida T, Masuda J, Itoh T, Katsumata D, Ohno T, Fukushima Y. Wakui K, et al. Jinrui Idengaku Zasshi. 1991 Jun;36(2):149-53. doi: 10.1007/BF01876577. Jinrui Idengaku Zasshi. 1991. PMID: 1920913

2

Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.

Fukushima Y, Wakui K, Nishida T, Ueoka Y. Fukushima Y, et al. Among authors: wakui k. Am J Med Genet. 1991 Sep 15;40(4):485-7. doi: 10.1002/ajmg.1320400423. Am J Med Genet. 1991. PMID: 1746616

3

Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)].

Fukushima Y, Wakui K, Nishida T, Nishimoto H. Fukushima Y, et al. Among authors: wakui k. Am J Med Genet. 1990 Jun;36(2):209-13. doi: 10.1002/ajmg.1320360214. Am J Med Genet. 1990. PMID: 2368808

4

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.

Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y. Wakui K, et al. J Hum Genet. 2002;47(10):511-6. doi: 10.1007/s100380200076. J Hum Genet. 2002. PMID: 12376739

5

A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines.

Fukushima Y, Ohashi H, Wakui K, Nishida T, Oh-ishi T. Fukushima Y, et al. Among authors: wakui k. Jpn J Hum Genet. 1992 Jun;37(2):149-50. doi: 10.1007/BF01899737. Jpn J Hum Genet. 1992. PMID: 1327290

6

De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.

Fukushima Y, Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T. Fukushima Y, et al. Among authors: wakui k. Am J Med Genet. 1995 Jul 3;57(3):447-9. doi: 10.1002/ajmg.1320570317. Am J Med Genet. 1995. PMID: 7677149

7

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.

8

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

9

Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes.

Wakui K, Ohashi H, Yamagishi A, Hamano S, Nara T, Ishikiriyama S, Nakamura Y, Fukushima Y. Wakui K, et al. Am J Med Genet. 1996 Oct 2;65(1):36-9. doi: 10.1002/(SICI)1096-8628(19961002)65:1<36::AID-AJMG5>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8914738 Review.

10

Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13.

Kim KC, Wakui K, Yamagishi A, Ohno T, Sato M, Imaizumi S, Aihara T, Fukushima Y, Ohashi H. Kim KC, et al. Among authors: wakui k. Am J Med Genet. 1997 Jan 10;68(1):70-3. doi: 10.1002/(sici)1096-8628(19970110)68:1<70::aid-ajmg13>3.0.co;2-l. Am J Med Genet. 1997. PMID: 8986279

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