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

Text availability

Article attribute

Article type

Publication date

Search Results

169 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
Kanno M, Suzuki M, Tanikawa K, Numakura C, Matsuzawa SI, Niihori T, Aoki Y, Matsubara Y, Makino S, Tamiya G, Nakano S, Funayama R, Shirota M, Nakayama K, Mitsui T, Hayasaka K. Kanno M, et al. Among authors: shirota m. J Hum Genet. 2022 Jul;67(7):393-397. doi: 10.1038/s10038-022-01017-0. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35087201
Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project.
Koshiba S, Motoike I, Saigusa D, Inoue J, Shirota M, Katoh Y, Katsuoka F, Danjoh I, Hozawa A, Kuriyama S, Minegishi N, Nagasaki M, Takai-Igarashi T, Ogishima S, Fuse N, Kure S, Tamiya G, Tanabe O, Yasuda J, Kinoshita K, Yamamoto M. Koshiba S, et al. Among authors: shirota m. Genes Cells. 2018 Jun;23(6):406-417. doi: 10.1111/gtc.12588. Epub 2018 Apr 27. Genes Cells. 2018. PMID: 29701317 Free article. Review.
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: shirota m. 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 GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: shirota m. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F; Tohoku Medical Megabank Project Study Group; Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M. Yasuda J, et al. Among authors: shirota m. J Biochem. 2019 Feb 1;165(2):139-158. doi: 10.1093/jb/mvy096. J Biochem. 2019. PMID: 30452759
169 results