Kubota T - Search Results

1

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. Among authors: kubota t. J Hum Genet. 2002;47(10):511-6. doi: 10.1007/s100380200076. J Hum Genet. 2002. PMID: 12376739

2

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

Wakui K, Tanemura M, Suzumori K, Hidaka E, Ishikawa M, Kubota T, Fukushima Y. Wakui K, et al. Among authors: kubota t. J Hum Genet. 1999;44(2):85-90. doi: 10.1007/s100380050115. J Hum Genet. 1999. PMID: 10083730

3

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H. Shirohzu H, et al. Among authors: kubota t. Am J Med Genet. 2002 Sep 15;112(1):31-7. doi: 10.1002/ajmg.10658. Am J Med Genet. 2002. PMID: 12239717

4

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.

Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y. Kubota T, et al. Clin Genet. 1998 Sep;54(3):199-202. doi: 10.1111/j.1399-0004.1998.tb04284.x. Clin Genet. 1998. PMID: 9788721

5

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, Wakui K, Shimadzu M, Fukushima Y. Kubota T, et al. Hum Genet. 1999 Jan;104(1):49-55. doi: 10.1007/s004390050909. Hum Genet. 1999. PMID: 10071192

6

Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.

Kubota T, Oga S, Ohashi H, Iwamoto Y, Fukushima Y. Kubota T, et al. Am J Med Genet. 1999 Nov 26;87(3):258-61. Am J Med Genet. 1999. PMID: 10564881

7

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Kojima H, Wada T, Seki H, Kubota T, Wakui K, Fukushima Y. Kojima H, et al. Among authors: kubota t. Genet Test. 2008 Dec;12(4):557-61. doi: 10.1089/gte.2008.0048. Genet Test. 2008. PMID: 18976157

8

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. Am J Med Genet. 1994 Feb 15;49(4):378-83. doi: 10.1002/ajmg.1320490405. Am J Med Genet. 1994. PMID: 7909196

9

[Proteus syndrome].

Kubota T, Fukushima Y. Kubota T, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):66-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057145 Review. Japanese. No abstract available.

10

'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation.

Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T. Matsumura M, et al. Among authors: kubota t. Clin Genet. 2003 Jan;63(1):79-81. doi: 10.1034/j.1399-0004.2003.630114.x. Clin Genet. 2003. PMID: 12519378 No abstract available.

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