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195 results

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SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: hirahara f. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N. Nishimura-Tadaki A, et al. Among authors: hirahara f. J Hum Genet. 2011 Feb;56(2):156-60. doi: 10.1038/jhg.2010.155. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150920
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: hirahara f. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
Preconceptional folic acid supplementation in Japan.
Hirahara F, Hamanoue H, Kurasawa K. Hirahara F, et al. Congenit Anom (Kyoto). 2017 Sep;57(5):171-172. doi: 10.1111/cga.12238. Epub 2017 Aug 16. Congenit Anom (Kyoto). 2017. PMID: 28708254 Free PMC article. No abstract available.
Changes in the number of babies born with Down syndrome in Japan.
Sugo Y, Kurasawa K, Saigusa Y, Hamanoue H, Hirahara F, Miyagi E. Sugo Y, et al. Among authors: hirahara f. J Obstet Gynaecol Res. 2022 Sep;48(9):2385-2391. doi: 10.1111/jog.15342. Epub 2022 Jun 28. J Obstet Gynaecol Res. 2022. PMID: 35762191
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: hirahara f. 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
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. Among authors: hirahara f. 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.
195 results