Nomura N - Search Results

1

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N. Fukushi D, et al. Among authors: nomura n. Am J Med Genet A. 2014 Apr;164A(4):924-33. doi: 10.1002/ajmg.a.36373. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478188

2

Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.

Yamada Y, Makarewicz W, Goto H, Nomura N, Kitoh H, Ogasawara N. Yamada Y, et al. Among authors: nomura n. Adv Exp Med Biol. 1998;431:347-50. doi: 10.1007/978-1-4615-5381-6_69. Adv Exp Med Biol. 1998. PMID: 9598089 No abstract available.

3

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M. Wakamatsu N, et al. Among authors: nomura n. Nat Genet. 2001 Apr;27(4):369-70. doi: 10.1038/86860. Nat Genet. 2001. PMID: 11279515

4

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta SI, Yamanaka T, Wakamatsu N. Yamada Y, et al. Among authors: nomura n. Hum Mutat. 2001 Sep;18(3):253. doi: 10.1002/humu.1186. Hum Mutat. 2001. PMID: 11524741

5

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N. Yamada K, et al. Among authors: nomura n. Am J Hum Genet. 2001 Dec;69(6):1178-85. doi: 10.1086/324343. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11592033 Free PMC article.

6

Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.

Yamada Y, Nomura N, Kitoh H, Wakamatsu N, Ogasawara N. Yamada Y, et al. Among authors: nomura n. Adv Exp Med Biol. 2000;486:29-33. doi: 10.1007/0-306-46843-3_6. Adv Exp Med Biol. 2000. PMID: 11783502 No abstract available.

7

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: nomura n. Congenit Anom (Kyoto). 2005 Jun;45(2):59-61. doi: 10.1111/j.1741-4520.2005.00064.x. Congenit Anom (Kyoto). 2005. PMID: 15904433

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: nomura n. 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

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: nomura n. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4. doi: 10.1080/15257770802135869. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600506

10

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N. Yamada Y, et al. Among authors: nomura n. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):291-4. doi: 10.1080/15257771003738691. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544509

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