Fukushima Y - Search Results

1

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: fukushima y. Hum Genet. 1998 Dec;103(6):633-8. doi: 10.1007/s004390050883. Hum Genet. 1998. PMID: 9921895

2

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: fukushima 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

3

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: fukushima y. Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413. Hum Genet. 1995. PMID: 7649548

4

Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.

Kuwano A, Morimoto Y, Nagai T, Fukushima Y, Ohashi H, Hasegawa T, Kondo I. Kuwano A, et al. Among authors: fukushima y. Hum Genet. 1996 Jan;97(1):95-8. doi: 10.1007/BF00218841. Hum Genet. 1996. PMID: 8557270

5

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y. Hasegawa T, et al. Among authors: fukushima y. Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9415468 Review.

6

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

7

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.

8

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

9

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. Nagai T, et al. Among authors: fukushima y. Am J Med Genet. 1995 Jan 2;55(1):16-8. doi: 10.1002/ajmg.1320550106. Am J Med Genet. 1995. PMID: 7702088

10

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I.

Tsukamoto K, Tohma T, Ohta T, Yamakawa K, Fukushima Y, Nakamura Y, Niikawa N. Tsukamoto K, et al. Among authors: fukushima y. Hum Mol Genet. 1992 Aug;1(5):315-7. doi: 10.1093/hmg/1.5.315. Hum Mol Genet. 1992. PMID: 1303207

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