Muroya K - Search Results

1

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.

Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T. Komoda F, et al. Among authors: muroya k. Pediatr Nephrol. 2004 Jul;19(7):728-33. doi: 10.1007/s00467-004-1424-1. Epub 2004 Mar 31. Pediatr Nephrol. 2004. PMID: 15054642

2

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T. Ogata T, et al. Among authors: muroya k. J Clin Endocrinol Metab. 2002 Mar;87(3):1390-4. doi: 10.1210/jcem.87.3.8348. J Clin Endocrinol Metab. 2002. PMID: 11889214

3

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

Muroya K, Yamamoto K, Fukushima Y, Ogata T. Muroya K, et al. Am J Med Genet. 2002 Jul 15;110(4):332-7. doi: 10.1002/ajmg.10466. Am J Med Genet. 2002. PMID: 12116206

4

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. Kosaki K, et al. Among authors: muroya k. J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33. doi: 10.1210/jcem.87.8.8694. J Clin Endocrinol Metab. 2002. PMID: 12161469

5

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Itakura M, Ogata T. Muroya K, et al. Endocr J. 2010;57(2):171-4. doi: 10.1507/endocrj.k09e-313. Epub 2009 Dec 1. Endocr J. 2010. PMID: 19952462 Free article.

6

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T. Fukami M, et al. Among authors: muroya k. Mol Genet Metab. 2010 Jul;100(3):269-73. doi: 10.1016/j.ymgme.2010.03.023. Epub 2010 Apr 3. Mol Genet Metab. 2010. PMID: 20409737

7

GATA3 abnormalities in six patients with HDR syndrome.

Fukami M, Muroya K, Miyake T, Iso M, Kato F, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T. Fukami M, et al. Among authors: muroya k. Endocr J. 2011;58(2):117-21. doi: 10.1507/endocrj.k10e-234. Epub 2011 Jan 13. Endocr J. 2011. PMID: 21242646 Free article.

8

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Fuke T, et al. Among authors: muroya k. PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533668 Free PMC article.

9

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Suzuki J, et al. Among authors: muroya k. J Hum Genet. 2014 Jun;59(6):353-6. doi: 10.1038/jhg.2014.34. Epub 2014 May 8. J Hum Genet. 2014. PMID: 24804704

10

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.

Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M. Igarashi M, et al. Among authors: muroya k. Sex Dev. 2015;9(3):130-5. doi: 10.1159/000380842. Epub 2015 Mar 31. Sex Dev. 2015. PMID: 25833151

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