Nagai T - Search Results

1

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: nagai t. 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

2

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: nagai t. 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

3

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

Matsubara K, Murakami N, Nagai T, Ogata T. Matsubara K, et al. Among authors: nagai t. J Hum Genet. 2011 Aug;56(8):566-71. doi: 10.1038/jhg.2011.59. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633360

4

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M. Tsuchiya T, et al. Among authors: nagai t. Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311385

5

A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.

Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. Yoshida R, et al. Among authors: nagai t. Am J Med Genet A. 2004 Jul 1;128A(1):63-6. doi: 10.1002/ajmg.a.30029. Am J Med Genet A. 2004. PMID: 15211660

6

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: nagai t. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

7

[XX male].

Nagai T, Ogata T. Nagai T, et al. Nihon Rinsho. 2006 Jun 28;Suppl 2:519-21. Nihon Rinsho. 2006. PMID: 16817455 Review. Japanese. No abstract available.

8

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.

Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Kagami M, et al. Among authors: nagai t. J Assist Reprod Genet. 2007 Apr;24(4):131-6. doi: 10.1007/s10815-006-9096-3. Epub 2007 Feb 16. J Assist Reprod Genet. 2007. PMID: 17450433 Free PMC article.

9

Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.

Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M. Ayabe T, et al. Among authors: nagai t. Am J Med Genet A. 2013 Jun;161A(6):1495-7. doi: 10.1002/ajmg.a.35893. Epub 2013 May 6. Am J Med Genet A. 2013. PMID: 23650177 No abstract available.

10

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.

Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Katoh-Fukui Y, et al. Among authors: nagai t. Mol Genet Genomic Med. 2015 Jul 14;3(6):550-7. doi: 10.1002/mgg3.165. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740947 Free PMC article.

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