Yamada Y - Search Results

1

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N. Yamada K, et al. Among authors: yamada y. BMC Med Genet. 2010 Dec 22;11:171. doi: 10.1186/1471-2350-11-171. BMC Med Genet. 2010. PMID: 21176162 Free PMC article.

2

Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

Mizunuma M, Yamada Y, Yamada K, Sonta S, Wakamatsu N, Kaneko K, Ogasawara N, Fujimori S. Mizunuma M, et al. Among authors: yamada y, yamada k. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1173-6. doi: 10.1081/NCN-200027441. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571224

3

[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities].

Miura K, Kumagai T, Suzuki Y, Ohki T, Matsumoto A, Miyazaki S, Hayakawa C, Sonta S, Yamada Y, Wakamatsu N. Miura K, et al. Among authors: yamada y. No To Hattatsu. 2005 Jan;37(1):39-45. No To Hattatsu. 2005. PMID: 15675358 Japanese.

4

Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.

Mizuno S, Yamada Y, Yamada K, Nomura N, Wakamatsu N. Mizuno S, et al. Among authors: yamada y, yamada k. Congenit Anom (Kyoto). 2005 Jun;45(2):59-61. doi: 10.1111/j.1741-4520.2005.00064.x. Congenit Anom (Kyoto). 2005. PMID: 15904433

5

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N. Kondo Y, et al. Among authors: yamada y, yamada k. Am J Med Genet A. 2006 Feb 1;140(3):227-32. doi: 10.1002/ajmg.a.31073. Am J Med Genet A. 2006. PMID: 16411203

6

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

Yamada Y, Nomura N, Yamada K, Wakamatsu N. Yamada Y, et al. Among authors: yamada k. Mol Genet Metab. 2007 Jan;90(1):70-6. doi: 10.1016/j.ymgme.2006.08.013. Epub 2006 Oct 4. Mol Genet Metab. 2007. PMID: 17027311

7

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y. Ishida Y, et al. Among authors: yamada y. Eur J Pediatr. 2008 Aug;167(8):957-9. doi: 10.1007/s00431-007-0607-8. Epub 2007 Sep 21. Eur J Pediatr. 2008. PMID: 17891542

8

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: yamada k. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4. doi: 10.1080/15257770802135869. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600506

9

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.

Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki KJ, Yamada Y, Mizuno S, Wakamatsu N. Yamada K, et al. Among authors: yamada y. Am J Med Genet A. 2010 Dec;152A(12):3057-67. doi: 10.1002/ajmg.a.33174. Am J Med Genet A. 2010. PMID: 21086493

10

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).

Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N. Mizuno S, et al. Among authors: yamada y, yamada k. Am J Med Genet A. 2011 Sep;155A(9):2274-80. doi: 10.1002/ajmg.a.34160. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834029

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