Kubota T - Search Results

1

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

Imai K, Shimadzu M, Kubota T, Morio T, Matsunaga T, Park YD, Yoshioka A, Nonoyama S. Imai K, et al. Among authors: kubota t. Biochim Biophys Acta. 2006 Mar;1762(3):335-40. doi: 10.1016/j.bbadis.2005.10.003. Epub 2005 Oct 28. Biochim Biophys Acta. 2006. PMID: 16311023 Free article.

2

Clinical and Immunological Characterization of ICF Syndrome in Japan.

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S. Kamae C, et al. Among authors: kubota t. J Clin Immunol. 2018 Nov;38(8):927-937. doi: 10.1007/s10875-018-0559-y. Epub 2018 Oct 23. J Clin Immunol. 2018. PMID: 30353301

3

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

4

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T. Sakazume S, et al. Among authors: kubota t. Hum Genet. 2012 Jan;131(1):121-30. doi: 10.1007/s00439-011-1051-4. Epub 2011 Jul 7. Hum Genet. 2012. PMID: 21735174

5

Cosmid clones from microdissected human chromosomal region 15q11-q13.

Tohma T, Tamura T, Ohta T, Soejima H, Kubota T, Jinno Y, Tsukamoto K, Nakamura Y, Naritomi K, Niikawa N. Tohma T, et al. Among authors: kubota t. Jpn J Hum Genet. 1993 Sep;38(3):267-75. doi: 10.1007/BF01874137. Jpn J Hum Genet. 1993. PMID: 8260719

6

Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X.

Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N. Ida T, et al. Among authors: kubota t. Am J Med Genet A. 2003 Aug 1;120A(4):557-61. doi: 10.1002/ajmg.a.20096. Am J Med Genet A. 2003. PMID: 12884439

7

Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.

Arai T, Oh-ishi T, Yamamoto H, Nunoi H, Kamizono J, Uehara M, Kubota T, Sakurai T, Kizaki T, Ohno H. Arai T, et al. Among authors: kubota t. PLoS One. 2012;7(2):e27782. doi: 10.1371/journal.pone.0027782. Epub 2012 Feb 27. PLoS One. 2012. PMID: 22383943 Free PMC article.

8

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

Butler MG, Christian SL, Kubota T, Ledbetter DH. Butler MG, et al. Among authors: kubota t. Am J Med Genet. 1996 Oct 16;65(2):137-41. doi: 10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911606 Free PMC article.

9

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.

Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. Kubota T, et al. Cytogenet Genome Res. 2002;99(1-4):276-84. doi: 10.1159/000071604. Cytogenet Genome Res. 2002. PMID: 12900575

10

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H. Yang X, et al. Among authors: kubota t. J Clin Immunol. 2015 Apr;35(3):244-8. doi: 10.1007/s10875-015-0144-6. Epub 2015 Mar 7. J Clin Immunol. 2015. PMID: 25744037

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