Nakamura Y - Search Results

1

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: nakamura y. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

2

Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia.

Kato R, Matsumoto N, Fujimoto M, Nakano M, Nakamura Y, Niikawa N. Kato R, et al. Among authors: nakamura y. Jpn J Hum Genet. 1997 Dec;42(4):525-32. doi: 10.1007/BF02767029. Jpn J Hum Genet. 1997. PMID: 9560952

3

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: nakamura 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.

4

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

5

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Ikegawa S, et al. Among authors: nakamura y. Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413. Hum Genet. 1995. PMID: 7649548

6

Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.

Ohta T, Nakano M, Tsujita T, Abe K, Osoegawa K, Yamagata T, Yoshiura K, Jinno Y, Soeda E, Nakamura Y, Niikawa N. Ohta T, et al. Among authors: nakamura y. Am J Hum Genet. 1996 Mar;58(3):544-50. Am J Hum Genet. 1996. PMID: 8644714 Free PMC article.

7

Dinucleotide repeat polymorphism on chromosome 9q32.

Toda T, Ikegawa S, Miyake M, Nakahori Y, Nakamura Y. Toda T, et al. Among authors: nakamura y. Jpn J Hum Genet. 1995 Dec;40(4):333-4. doi: 10.1007/BF01900600. Jpn J Hum Genet. 1995. PMID: 8851767

8

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].

Ikegawa S, Ohashi H, Hosoda F, Fukushima Y, Ohki M, Nakamura Y. Ikegawa S, et al. Among authors: nakamura y. Am J Med Genet. 1998 Jun 5;77(5):356-9. doi: 10.1002/(sici)1096-8628(19980605)77:5<356::aid-ajmg3>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9632164

9

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Ikegawa S, et al. Among authors: nakamura y. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

10

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. Ikegawa S, et al. Among authors: nakamura y. Hum Genet. 1998 Dec;103(6):633-8. doi: 10.1007/s004390050883. Hum Genet. 1998. PMID: 9921895

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