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

473 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. Among authors: kure s. J Hum Genet. 2024 May;69(5):177-183. doi: 10.1038/s10038-024-01223-y. Epub 2024 Feb 13. J Hum Genet. 2024. PMID: 38351237 Free PMC article.
dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.
Ogishima S, Nagaie S, Mizuno S, Ishiwata R, Iida K, Shimokawa K, Takai-Igarashi T, Nakamura N, Nagase S, Nakamura T, Tsuchiya N, Nakaya N, Murakami K, Ueno F, Onuma T, Ishikuro M, Obara T, Mugikura S, Tomita H, Uruno A, Kobayashi T, Tsuboi A, Tadaka S, Katsuoka F, Narita A, Sakurai M, Makino S, Tamiya G, Aoki Y, Shimizu R, Motoike IN, Koshiba S, Minegishi N, Kumada K, Nobukuni T, Suzuki K, Danjoh I, Nagami F, Tanno K, Ohmomo H, Asahi K, Shimizu A, Hozawa A, Kuriyama S; Tohoku Medical Megabank Project Study Group; Fuse N, Tominaga T, Kure S, Yaegashi N, Kinoshita K, Sasaki M, Tanaka H, Yamamoto M. Ogishima S, et al. Among authors: kure s. Hum Genome Var. 2021 Dec 10;8(1):44. doi: 10.1038/s41439-021-00175-5. Hum Genome Var. 2021. PMID: 34887386 Free PMC article.
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: kure s. 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.
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. Among authors: kure s. J Hum Genet. 2024 May;69(5):185. doi: 10.1038/s10038-024-01245-6. J Hum Genet. 2024. PMID: 38548934 Free PMC article. No abstract available.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Among authors: kure s. Am J Med Genet A. 2024 May 17:e63656. doi: 10.1002/ajmg.a.63656. Online ahead of print. Am J Med Genet A. 2024. PMID: 38760879
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: kure s. Genet Med. 2024 May 16:101165. doi: 10.1016/j.gim.2024.101165. Online ahead of print. Genet Med. 2024. PMID: 38762772 Free article.
Risk of Major Congenital Malformations Associated with the Use of Japanese Traditional (Kampo) Medicine Containing Ephedra During the First Trimester of Pregnancy.
Noda A, Obara T, Matsuzaki F, Suzuki S, Arita R, Ohsawa M, Obara R, Morishita K, Ueno F, Shinoda G, Orui M, Murakami K, Ishikuro M, Kikuchi A, Takayama S, Ishii T, Kawame H, Kure S, Kuriyama S. Noda A, et al. Among authors: kure s. Drugs Real World Outcomes. 2024 Jan 19. doi: 10.1007/s40801-023-00411-0. Online ahead of print. Drugs Real World Outcomes. 2024. PMID: 38240961
473 results