Yamada Y - Search Results

1

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. Naiki M, et al. Among authors: yamada y, yamada k. Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664533

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

Mowat-Wilson syndrome affecting 3 siblings.

Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N. Ohtsuka M, et al. Among authors: yamada y. J Child Neurol. 2008 Mar;23(3):274-8. doi: 10.1177/0883073807309231. Epub 2008 Jan 29. J Child Neurol. 2008. PMID: 18230842

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

9,966 results

Search Page

Filters