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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: miyawaki m. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Plasma angiotensin II concentrations in the early neonatal period.
Miyawaki M, Okutani T, Higuchi R, Yoshikawa N. Miyawaki M, et al. Arch Dis Child Fetal Neonatal Ed. 2006 Sep;91(5):F359-62. doi: 10.1136/adc.2005.089573. Epub 2006 Apr 4. Arch Dis Child Fetal Neonatal Ed. 2006. PMID: 16595591 Free PMC article.
A genome-wide association study identifies three new risk loci for Kawasaki disease.
Onouchi Y, Ozaki K, Burns JC, Shimizu C, Terai M, Hamada H, Honda T, Suzuki H, Suenaga T, Takeuchi T, Yoshikawa N, Suzuki Y, Yasukawa K, Ebata R, Higashi K, Saji T, Kemmotsu Y, Takatsuki S, Ouchi K, Kishi F, Yoshikawa T, Nagai T, Hamamoto K, Sato Y, Honda A, Kobayashi H, Sato J, Shibuta S, Miyawaki M, Oishi K, Yamaga H, Aoyagi N, Iwahashi S, Miyashita R, Murata Y, Sasago K, Takahashi A, Kamatani N, Kubo M, Tsunoda T, Hata A, Nakamura Y, Tanaka T; Japan Kawasaki Disease Genome Consortium; US Kawasaki Disease Genetics Consortium. Onouchi Y, et al. Among authors: miyawaki m. Nat Genet. 2012 Mar 25;44(5):517-21. doi: 10.1038/ng.2220. Nat Genet. 2012. PMID: 22446962
Variations in ORAI1 Gene Associated with Kawasaki Disease.
Onouchi Y, Fukazawa R, Yamamura K, Suzuki H, Kakimoto N, Suenaga T, Takeuchi T, Hamada H, Honda T, Yasukawa K, Terai M, Ebata R, Higashi K, Saji T, Kemmotsu Y, Takatsuki S, Ouchi K, Kishi F, Yoshikawa T, Nagai T, Hamamoto K, Sato Y, Honda A, Kobayashi H, Sato J, Shibuta S, Miyawaki M, Oishi K, Yamaga H, Aoyagi N, Yoshiyama M, Miyashita R, Murata Y, Fujino A, Ozaki K, Kawasaki T, Abe J, Seki M, Kobayashi T, Arakawa H, Ogawa S, Hara T, Hata A, Tanaka T. Onouchi Y, et al. Among authors: miyawaki m. PLoS One. 2016 Jan 20;11(1):e0145486. doi: 10.1371/journal.pone.0145486. eCollection 2016. PLoS One. 2016. PMID: 26789410 Free PMC article.
Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6-year clinical course.
Uraki S, Furuta H, Miyawaki M, Matsutani N, Shima Y, Iwamoto M, Matsuno S, Morita S, Furuta M, Doi A, Iwakura H, Ariyasu H, Nishi M, Suzuki H, Akamizu T. Uraki S, et al. Among authors: miyawaki m. J Diabetes Investig. 2020 Mar;11(2):502-505. doi: 10.1111/jdi.13127. Epub 2019 Aug 27. J Diabetes Investig. 2020. PMID: 31390154 Free PMC article.
Membranous nephropathy associated with thyroid-peroxidase antigen.
Shima Y, Nakanishi K, Togawa H, Obana M, Sako M, Miyawaki M, Nozu K, Iijima K, Yoshikawa N. Shima Y, et al. Among authors: miyawaki m. Pediatr Nephrol. 2009 Mar;24(3):605-8. doi: 10.1007/s00467-008-0973-0. Epub 2008 Sep 2. Pediatr Nephrol. 2009. PMID: 18762990
172 results