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1,837 results

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Page 1
Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A. Kabata R, et al. Among authors: hata k. PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018. PLoS One. 2018. PMID: 30557356 Free PMC article.
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Fuke T, et al. Among authors: hata k. PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533668 Free PMC article.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: hata k. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Hattori A, et al. Among authors: hata k. Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3. Endocr J. 2017. PMID: 28768959 Free article.
Integrated Molecular Characterization of the Lethal Pediatric Cancer Pancreatoblastoma.
Isobe T, Seki M, Yoshida K, Sekiguchi M, Shiozawa Y, Shiraishi Y, Kimura S, Yoshida M, Inoue Y, Yokoyama A, Kakiuchi N, Suzuki H, Kataoka K, Sato Y, Kawai T, Chiba K, Tanaka H, Shimamura T, Kato M, Iguchi A, Hama A, Taguchi T, Akiyama M, Fujimura J, Inoue A, Ito T, Deguchi T, Kiyotani C, Iehara T, Hosoi H, Oka A, Sanada M, Tanaka Y, Hata K, Miyano S, Ogawa S, Takita J. Isobe T, et al. Among authors: hata k. Cancer Res. 2018 Feb 15;78(4):865-876. doi: 10.1158/0008-5472.CAN-17-2581. Epub 2017 Dec 12. Cancer Res. 2018. PMID: 29233928
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.
Sato T, Samura O, Kato N, Taniguchi K, Takahashi K, Ito Y, Aoki H, Kobayashi M, Migita O, Okamoto A, Hata K. Sato T, et al. Among authors: hata k. Hum Genome Var. 2018 May 10;5:5. doi: 10.1038/s41439-018-0004-z. eCollection 2018. Hum Genome Var. 2018. PMID: 29760939 Free PMC article.
Characteristics of genetic alterations of peripheral T-cell lymphoma in childhood including identification of novel fusion genes: the Japan Children's Cancer Group (JCCG).
Ohki K, Kiyokawa N, Watanabe S, Iwafuchi H, Nakazawa A, Ishiwata K, Ogata-Kawata H, Nakabayashi K, Okamura K, Tanaka F, Fukano R, Hata K, Mori T, Moriya Saito A, Hayashi Y, Taga T, Sekimizu M, Kobayashi R; Japan Children’s Cancer Study Group (JCCG). Ohki K, et al. Among authors: hata k. Br J Haematol. 2021 Aug;194(4):718-729. doi: 10.1111/bjh.17639. Epub 2021 Jul 13. Br J Haematol. 2021. PMID: 34258755
1,837 results