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Patients with SATB2-associated syndrome exhibiting multiple odontomas.
Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI. Kikuiri T, et al. Among authors: yamada t. Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21. Am J Med Genet A. 2018. PMID: 30575289
The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.
Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. Kayashima T, et al. Among authors: yamada t. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K. Tsuda M, et al. Among authors: yamada t. J Hum Genet. 2010 Feb;55(2):124-6. doi: 10.1038/jhg.2009.131. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075946 Free article.
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T. Takagi M, et al. Among authors: yamada t. Am J Med Genet A. 2015 Nov;167A(11):2851-4. doi: 10.1002/ajmg.a.37231. Epub 2015 Jun 30. Am J Med Genet A. 2015. PMID: 26126848 No abstract available.
Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
Yamada T, Sekizawa A, Fujii Y, Hirose T, Samura O, Suzumori N, Miura K, Sawai H, Hirahara F, Murotsuki J, Kamei Y, Sago H; Japan NIPT consortium*. Yamada T, et al. J Hum Genet. 2018 Oct;63(10):1035-1040. doi: 10.1038/s10038-018-0453-8. Epub 2018 May 30. J Hum Genet. 2018. PMID: 29849041 Clinical Trial.
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