Okuyama T - Search Results

1

Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.

Mutai H, Kouike H, Teruya E, Takahashi-Kodomari I, Kakishima H, Taiji H, Usami S, Okuyama T, Matsunaga T. Mutai H, et al. Among authors: okuyama t. BMC Med Genet. 2011 Oct 12;12:135. doi: 10.1186/1471-2350-12-135. BMC Med Genet. 2011. PMID: 21989059 Free PMC article.

2

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

Kosaki R, Hanai S, Kakishima H, Okada MA, Hayashi S, Ito Y, Takahashi T, Kosaki K, Okuyama T. Kosaki R, et al. Among authors: okuyama t. Congenit Anom (Kyoto). 2006 Jun;46(2):115-7. doi: 10.1111/j.1741-4520.2006.00111.x. Congenit Anom (Kyoto). 2006. PMID: 16732770

3

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.

Matsunaga T, Okada M, Usami S, Okuyama T. Matsunaga T, et al. Among authors: okuyama t. Acta Otolaryngol. 2007 Jan;127(1):98-104. doi: 10.1080/00016480500527185. Acta Otolaryngol. 2007. PMID: 17364338

4

DHPLC in clinical molecular diagnostic services.

Kosaki K, Udaka T, Okuyama T. Kosaki K, et al. Among authors: okuyama t. Mol Genet Metab. 2005 Sep-Oct;86(1-2):117-23. doi: 10.1016/j.ymgme.2005.07.033. Mol Genet Metab. 2005. PMID: 16202954 Review.

5

Paternal UPD14 is responsible for a distinctive malformation complex.

Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. Kurosawa K, et al. Among authors: okuyama t. Am J Med Genet. 2002 Jul 1;110(3):268-72. doi: 10.1002/ajmg.10404. Am J Med Genet. 2002. PMID: 12116236

6

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Okada M, Fujimaru R, Morimoto N, Satomura K, Kaku Y, Tsuzuki K, Nozu K, Okuyama T, Iijima K. Okada M, et al. Among authors: okuyama t. Pediatr Nephrol. 2006 Apr;21(4):475-81. doi: 10.1007/s00467-006-0041-6. Epub 2006 Feb 21. Pediatr Nephrol. 2006. PMID: 16491411

7

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: okuyama t. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

8

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: okuyama t. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036

9

Newborn screening for Pompe disease in Japan.

Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: okuyama t. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784

10

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. Hayashi S, et al. Among authors: okuyama t. Am J Med Genet A. 2008 Aug 15;146A(16):2145-51. doi: 10.1002/ajmg.a.32433. Am J Med Genet A. 2008. PMID: 18629876

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