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Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: mabe h. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: mabe h. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y. Niihori T, et al. Among authors: mabe h. J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18. J Hum Genet. 2011. PMID: 21850009
Epidemiology of anorexia nervosa in Japanese adolescents.
Hotta M, Horikawa R, Mabe H, Yokoyama S, Sugiyama E, Yonekawa T, Nakazato M, Okamoto Y, Ohara C, Ogawa Y. Hotta M, et al. Among authors: mabe h. Biopsychosoc Med. 2015 Aug 14;9:17. doi: 10.1186/s13030-015-0044-2. eCollection 2015. Biopsychosoc Med. 2015. PMID: 26273318 Free PMC article.
Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
Yamada S, Tomura H, Nishigori H, Sho K, Mabe H, Iwatani N, Takumi T, Kito Y, Moriya N, Muroya K, Ogata T, Onigata K, Morikawa A, Inoue I, Takeda J. Yamada S, et al. Among authors: mabe h. Diabetes. 1999 Mar;48(3):645-8. doi: 10.2337/diabetes.48.3.645. Diabetes. 1999. PMID: 10078571 No abstract available.
Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.
Ishihara Y, Ohata Y, Takeyari S, Kitaoka T, Fujiwara M, Nakano Y, Yamamoto K, Yamada C, Yamamoto K, Michigami T, Mabe H, Yamaguchi T, Matsui K, Tamada I, Namba N, Yamamoto A, Etoh J, Kawaguchi A, Kosugi R, Ozono K, Kubota T. Ishihara Y, et al. Among authors: mabe h. Bone. 2021 Dec;153:116135. doi: 10.1016/j.bone.2021.116135. Epub 2021 Jul 30. Bone. 2021. PMID: 34333162 Free article.
Glucoregulatory disorders in school refusal students.
Iwatani N, Miike T, Kai Y, Kodama M, Mabe H, Tomoda A, Fukuda K, Jyodoi T. Iwatani N, et al. Among authors: mabe h. Clin Endocrinol (Oxf). 1997 Sep;47(3):273-8. doi: 10.1046/j.1365-2265.1997.2191095.x. Clin Endocrinol (Oxf). 1997. PMID: 9373447
60 results