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Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography.
Yamada T, Nishimura G, Nishida K, Sawai H, Omatsu T, Kimura T, Nishihara H, Shono R, Shimada S, Morikawa M, Mizushima M, Yamada T, Cho K, Tanaka S, Shirato H, Minakami H. Yamada T, et al. J Obstet Gynaecol Res. 2011 Feb;37(2):151-5. doi: 10.1111/j.1447-0756.2010.01324.x. Epub 2010 Dec 16. J Obstet Gynaecol Res. 2011. PMID: 21159031 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.
Criteria for radiologic diagnosis of hypochondroplasia in neonates.
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Saito T, et al. Among authors: yamada t. Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11. Pediatr Radiol. 2016. PMID: 26867606
Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy.
Suzumori N, Ebara T, Yamada T, Samura O, Yotsumoto J, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Saldivar JS, Dharajiya N, Sago H, Sekizawa A; Japan NIPT Consortium. Suzumori N, et al. Among authors: yamada t. J Hum Genet. 2016 Jul;61(7):647-52. doi: 10.1038/jhg.2016.25. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984559
A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.
Yotsumoto J, Sekizawa A, Suzumori N, Yamada T, Samura O, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Endo T, Fukushima A, Namba A, Osada H, Kasai Y, Watanabe A, Katagiri Y, Takeshita N, Ogawa M, Okai T, Izumi S, Hamanoue H, Inuzuka M, Haino K, Hamajima N, Nishizawa H, Okamoto Y, Nakamura H, Kanegawa T, Yoshimatsu J, Tairaku S, Naruse K, Masuyama H, Hyodo M, Kaji T, Maeda K, Matsubara K, Ogawa M, Yoshizato T, Ohba T, Kawano Y, Sago H; Japan NIPT Consortium. Yotsumoto J, et al. Among authors: yamada t. J Hum Genet. 2016 Dec;61(12):995-1001. doi: 10.1038/jhg.2016.96. Epub 2016 Sep 8. J Hum Genet. 2016. PMID: 27604555
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