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Page 1
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: shiga k. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Sugisawa C, et al. Among authors: shiga k. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6229-6237. doi: 10.1210/jc.2019-00657. J Clin Endocrinol Metab. 2019. PMID: 31504637
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.
Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Kubo M, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Okuno M, et al. Among authors: shiga k. Diabet Med. 2018 Mar;35(3):376-380. doi: 10.1111/dme.13566. Epub 2018 Jan 3. Diabet Med. 2018. PMID: 29247561
Fulminant type 1 diabetes mellitus in Japanese children and adolescents: multi-institutional joint research of the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.
Shiga K, Urakami T, Suzuki J, Igarashi Y, Tajima H, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Shiga K, et al. Endocr J. 2018 Aug 27;65(8):795-803. doi: 10.1507/endocrj.EJ18-0029. Epub 2018 May 22. Endocr J. 2018. PMID: 29794414 Free article.
Acute encephalopathy of Bacillus cereus mimicking Reye syndrome.
Ichikawa K, Gakumazawa M, Inaba A, Shiga K, Takeshita S, Mori M, Kikuchi N. Ichikawa K, et al. Among authors: shiga k. Brain Dev. 2010 Sep;32(8):688-90. doi: 10.1016/j.braindev.2009.09.004. Epub 2009 Sep 30. Brain Dev. 2010. PMID: 19796886
473 results