Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2009 1
2010 3
2011 3
2012 5
2013 6
2014 11
2015 8
2016 10
2017 6
2018 9
2019 7
2020 8
2021 13
2022 9
2023 9
2024 11

Text availability

Article attribute

Article type

Publication date

Search Results

93 results

Results by year

Filters applied: . Clear all
Page 1
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: kikuchi a. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.
Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, Shimura K, Abe K, Sugisawa C, Ishii T, Miyako K, Hasegawa Y, Maruo Y, Muroya K, Watanabe N, Nishihara E, Ito Y, Kogai T, Kameyama K, Nakabayashi K, Hata K, Fukami M, Shima H, Kikuchi A, Takayama J, Tamiya G, Hasegawa T. Narumi S, et al. Among authors: kikuchi a. Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714868 Free PMC article.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Okubo Y, et al. Among authors: kikuchi a. Brain Dev. 2023 Oct;45(9):505-511. doi: 10.1016/j.braindev.2023.06.009. Epub 2023 Jul 12. Brain Dev. 2023. PMID: 37442734
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, Adachi M, Ikeda R, Nomura Y, Takayama J, Kawashima J, Katsuoka F, Fujishima F, Yamaguchi T, Ito A, Hanita T, Kanno J, Aizawa T, Nakazawa T, Kawase T, Tamiya G, Yamamoto M, Fujiwara I, Kure S. Saito-Hakoda A, et al. Among authors: kikuchi a. J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w. Epub 2022 Dec 15. J Bone Miner Metab. 2023. PMID: 36520195 Review.
Upregulation of hepatic nuclear receptors in extremely preterm ovine fetuses undergoing artificial placenta therapy.
Ikeda H, Watanabe S, Sato S, Fee EL, Carter SWD, Kumagai Y, Takahashi T, Kawamura S, Hanita T, Illanes SE, Choolani MA, Saito M, Kikuchi A, Kemp MW, Usuda H. Ikeda H, et al. Among authors: kikuchi a. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2301651. doi: 10.1080/14767058.2023.2301651. Epub 2024 Jan 9. J Matern Fetal Neonatal Med. 2024. PMID: 38195120 Free 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: kikuchi a. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome.
Haginoya K, Uematsu M, Munakata M, Kakisaka Y, Kikuchi A, Nakayama T, Hino-Fukuyo N, Tsuburaya R, Kitamura T, Sato-Shirai I, Abe Y, Matsumoto Y, Wakusawa K, Kobayashi T, Ishitobi M, Togashi N, Iwasaki M, Nakasato N, Iinuma K. Haginoya K, et al. Among authors: kikuchi a. Brain Dev. 2013 Nov;35(10):887-93. doi: 10.1016/j.braindev.2013.08.011. Epub 2013 Sep 15. Brain Dev. 2013. PMID: 24047572 Review.
Hypoketotic hypoglycemia in citrin deficiency: a case report.
Wada Y, Arai-Ichinoi N, Kikuchi A, Sakamoto O, Kure S. Wada Y, et al. Among authors: kikuchi a. BMC Pediatr. 2020 Sep 22;20(1):444. doi: 10.1186/s12887-020-02349-6. BMC Pediatr. 2020. PMID: 32962675 Free PMC article.
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: kikuchi a. 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.
93 results