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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 4
2004 3
2005 7
2006 6
2007 6
2008 5
2009 8
2010 14
2011 29
2012 20
2013 37
2014 37
2015 37
2016 46
2017 42
2018 52
2019 46
2020 35
2021 42
2022 24
2023 14
2024 8

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450 results

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Page 1
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K. Takeda Y, et al. Among authors: miyake n. J Exp Med. 2024 Jun 3;221(6):e20231941. doi: 10.1084/jem.20231941. Epub 2024 Apr 23. J Exp Med. 2024. PMID: 38652464 Free PMC article.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: miyake n. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
Higashimoto K, Sun F, Imagawa E, Saida K, Miyake N, Hara S, Yatsuki H, Kubiura-Ichimaru M, Fujita A, Mizuguchi T, Matsumoto N, Soejima H. Higashimoto K, et al. Among authors: miyake n. J Med Genet. 2024 Jan 16:jmg-2023-109621. doi: 10.1136/jmg-2023-109621. Online ahead of print. J Med Genet. 2024. PMID: 38228391
Streptococcal Toxic Shock Syndrome due to Streptococcus dysgalactiae subsp. equisimilis from Retroperitoneal Panniculitis during the treatment with anti-IL-6 receptor antibody: A Case Report.
Fujimoto S, Eriguchi Y, Nakamura R, Kamikawa S, Yonekawa A, Miyake N, Ono N, Niiro H. Fujimoto S, et al. Among authors: miyake n. Mod Rheumatol Case Rep. 2024 Jan 12:rxae001. doi: 10.1093/mrcr/rxae001. Online ahead of print. Mod Rheumatol Case Rep. 2024. PMID: 38217091
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.
Kawaguchi T, Okanishi T, Okazaki T, Aoki C, Kasagi N, Adachi K, Yoshida Y, Miyake N, Matsumoto N, Maegaki Y. Kawaguchi T, et al. Among authors: miyake n. Yonago Acta Med. 2023 Oct 19;66(4):463-466. doi: 10.33160/yam.2023.11.005. eCollection 2023 Nov. Yonago Acta Med. 2023. PMID: 38028263 Free PMC article.
Human phenotype caused by biallelic KDM4B frameshift variant.
Takada S, Silva S, Zamorano I, Pérez A, Iwabuchi C, Miyake N. Takada S, et al. Among authors: miyake n. Clin Genet. 2024 Jan;105(1):72-76. doi: 10.1111/cge.14409. Epub 2023 Aug 1. Clin Genet. 2024. PMID: 37526414
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. Guo L, et al. Among authors: miyake n. Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352860 Free PMC article.
450 results