Yamada Y - Search Results

1

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Yamada Y, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: yamada k. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):218-22. doi: 10.1080/15257770.2013.865743. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940672

2

[Hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y. Yamada Y. Nihon Rinsho. 2003 Jan;61 Suppl 1:71-6. Nihon Rinsho. 2003. PMID: 12629693 Review. Japanese. No abstract available.

3

[Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y. Yamada Y. Nihon Rinsho. 2003 Jan;61 Suppl 1:288-93. Nihon Rinsho. 2003. PMID: 12629733 Review. Japanese. No abstract available.

4

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

5

[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.

6

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

7

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

8

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

9

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

10

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y. Yamada Y. Nihon Rinsho. 2008 Apr;66(4):687-93. Nihon Rinsho. 2008. PMID: 18409516 Review. Japanese.

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