Fukushima Y - Search Results

1

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: fukushima y. Am J Hum Genet. 1999 Dec;65(6):1688-97. doi: 10.1086/302682. Am J Hum Genet. 1999. PMID: 10577923 Free PMC article.

2

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: fukushima y. Am J Hum Genet. 1994 Dec;55(6):1202-8. Am J Hum Genet. 1994. PMID: 7977381 Free PMC article.

3

Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet.

Matsumoto N, Ohashi H, Kato R, Fujimoto M, Tsujita T, Sasaki T, Nakano M, Miyoshi O, Fukushima Y, Niikawa N. Matsumoto N, et al. Among authors: fukushima y. Hum Genet. 1997 Apr;99(4):450-3. doi: 10.1007/s004390050387. Hum Genet. 1997. PMID: 9099832

4

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. Among authors: fukushima y. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

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: fukushima y. 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

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: fukushima y. Eur J Hum Genet. 2000 Jul;8(7):535-9. doi: 10.1038/sj.ejhg.5200485. Eur J Hum Genet. 2000. PMID: 10909854

7

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.

Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N. Kubota T, et al. Among authors: fukushima y. Am J Med Genet. 1994 Feb 15;49(4):378-83. doi: 10.1002/ajmg.1320490405. Am J Med Genet. 1994. PMID: 7909196

8

The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.

Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N. Ohta T, et al. Among authors: fukushima y. Hum Genet. 1993 Aug;92(1):1-5. doi: 10.1007/BF00216136. Hum Genet. 1993. PMID: 8365720

9

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. Hum Genet. 1993 Apr;91(3):205-9. doi: 10.1007/BF00218257. Hum Genet. 1993. PMID: 8478003

10

Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.

Coêlho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N. Coêlho KE, et al. Among authors: fukushima y. Am J Med Genet. 1996 Jun 14;63(3):468-71. doi: 10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8737654

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