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Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Ushijima K, et al. Among authors: ihara k. Pediatr Diabetes. 2018 Mar;19(2):243-250. doi: 10.1111/pedi.12544. Epub 2017 Jun 9. Pediatr Diabetes. 2018. PMID: 28597946
HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families.
Sugihara S, Ogata T, Kawamura T, Urakami T, Takemoto K, Kikuchi N, Takubo N, Tsubouchi K, Horikawa R, Kobayashi K, Kasahara Y, Kikuchi T, Koike A, Mochizuki T, Minamitani K, Takaya R, Mochizuki H, Nishii A, Yokota I, Kizaki Z, Mori T, Shimura N, Mukai T, Matsuura N, Fujisawa T, Ihara K, Kosaka K, Kizu R, Takahashi T, Matsuo S, Hanaki K, Igarashi Y, Sasaki G, Soneda S, Teno S, Kanzaki S, Saji H, Tokunaga K, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Sugihara S, et al. Among authors: ihara k. Pediatr Diabetes. 2012 Feb;13(1):33-44. doi: 10.1111/j.1399-5448.2011.00833.x. Epub 2011 Nov 29. Pediatr Diabetes. 2012. PMID: 22128760
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: ihara k. 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
Thyroid Follicular Carcinoma in a Fourteen-year-old Girl with Graves' Disease.
Kojima-Ishii K, Ihara K, Ohkubo K, Matsuo T, Toda N, Yamashita H, Kono S, Hara T. Kojima-Ishii K, et al. Among authors: ihara k. Clin Pediatr Endocrinol. 2014 Apr;23(2):59-64. doi: 10.1297/cpe.23.59. Epub 2014 Apr 20. Clin Pediatr Endocrinol. 2014. PMID: 24790388 Free PMC article.
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: ihara k. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report.
Sonoda Y, Yamamura K, Ishii K, Ohkubo K, Ihara K, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: ihara k. J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):207-210. doi: 10.4274/jcrpe.galenos.2018.2018.0169. Epub 2018 Oct 16. J Clin Res Pediatr Endocrinol. 2019. PMID: 30325337 Free PMC article.
881 results