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

Year Number of Results
2005 2
2006 2
2007 3
2008 2
2010 4
2011 5
2012 3
2013 4
2014 7
2015 13
2016 7
2017 9
2018 8
2019 9
2020 10
2021 4
2022 5
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81 results
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Page 1
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.
Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y. Abe T, et al. Among authors: niihori t. Cell Death Differ. 2020 Mar;27(3):1023-1035. doi: 10.1038/s41418-019-0395-5. Epub 2019 Jul 23. Cell Death Differ. 2020. PMID: 31337872 Free PMC article.
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. Among authors: niihori t. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Niihori T, et al. Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130285 Free PMC article.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: niihori t. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: niihori t. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y, Kikuchi A, Haginoya K, Niihori T, Numata-Uematsu Y, Inui T, Yamamura-Suzuki S, Miyabayashi T, Anzai M, Suzuki-Muromoto S, Okubo Y, Endo W, Togashi N, Kobayashi Y, Onuma A, Funayama R, Shirota M, Nakayama K, Aoki Y, Kure S. Takezawa Y, et al. Among authors: niihori t. Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. doi: 10.1002/acn3.551. eCollection 2018 May. Ann Clin Transl Neurol. 2018. PMID: 29761117 Free PMC article.
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.
Niitsuma S, Kudo H, Kikuchi A, Hayashi T, Kumakura S, Kobayashi S, Okuyama Y, Kumagai N, Niihori T, Aoki Y, So T, Funayama R, Nakayama K, Shirota M, Kondo S, Kagami S, Tsukaguchi H, Iijima K, Kure S, Ishii N. Niitsuma S, et al. Among authors: niihori t. Int Immunol. 2020 Apr 12;32(4):283-292. doi: 10.1093/intimm/dxz081. Int Immunol. 2020. PMID: 31954058
81 results