Niikawa N - Search Results

1

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

2

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: niikawa n. Hum Genet. 1993 Aug;92(1):1-5. doi: 10.1007/BF00216136. Hum Genet. 1993. PMID: 8365720

3

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

4

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: niikawa n. 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

5

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: niikawa n. Hum Genet. 1997 Apr;99(4):450-3. doi: 10.1007/s004390050387. Hum Genet. 1997. PMID: 9099832

6

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

7

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. Kondoh S, et al. Among authors: niikawa n. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

8

Duplication of 8p23.2: a benign cytogenetic variant?

Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Harada N, et al. Among authors: niikawa n. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324

9

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: niikawa n. Am J Hum Genet. 2003 May;72(5):1331-7. doi: 10.1086/375166. Epub 2003 Apr 9. Am J Hum Genet. 2003. PMID: 12687502 Free PMC article.

10

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: niikawa n. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949

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