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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: takayama j. 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.
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.
Nishioka M, Takayama J, Sakai N, Kazuno AA, Ishiwata M, Ueda J, Hayama T, Fujii K, Someya T, Kuriyama S, Tamiya G, Takata A, Kato T. Nishioka M, et al. Among authors: takayama j. Mol Psychiatry. 2023 Oct;28(10):4294-4306. doi: 10.1038/s41380-023-02096-x. Epub 2023 May 30. Mol Psychiatry. 2023. PMID: 37248276 Free PMC article.
jMorp: Japanese Multi-Omics Reference Panel update report 2023.
Tadaka S, Kawashima J, Hishinuma E, Saito S, Okamura Y, Otsuki A, Kojima K, Komaki S, Aoki Y, Kanno T, Saigusa D, Inoue J, Shirota M, Takayama J, Katsuoka F, Shimizu A, Tamiya G, Shimizu R, Hiratsuka M, Motoike IN, Koshiba S, Sasaki M, Yamamoto M, Kinoshita K. Tadaka S, et al. Among authors: takayama j. Nucleic Acids Res. 2024 Jan 5;52(D1):D622-D632. doi: 10.1093/nar/gkad978. Nucleic Acids Res. 2024. PMID: 37930845 Free PMC article.
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Inotani T, Horaguchi A, Morishita Y, Yoshida A, Otomo M, Suzuki M, Inui T, Okubo Y, Komatsu S, Mizuno C, Takahashi Y, Ochiai T, Kinjo T, Asato T, Takayama J, Tamiya G, Saijo N, Kikuchi A, Haginoya K. Inotani T, et al. Among authors: takayama j. Tohoku J Exp Med. 2024 Apr 24;262(4):239-244. doi: 10.1620/tjem.2024.J004. Epub 2024 Jan 25. Tohoku J Exp Med. 2024. PMID: 38267061 Free article.
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: takayama j. 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.
Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease.
Nakamura H, Kikuchi A, Sakai H, Kamimura M, Watanabe Y, Onuma R, Takayama J, Tamiya G, Mashimo Y, Ebata R, Hamada H, Suenaga T, Onouchi Y, Kumaki S. Nakamura H, et al. Among authors: takayama j. Front Pediatr. 2024 Mar 5;12:1340263. doi: 10.3389/fped.2024.1340263. eCollection 2024. Front Pediatr. 2024. PMID: 38510083 Free PMC article.
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: takayama j. 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.
A fine-scale genetic map of the Japanese population.
Takayama J, Makino S, Funayama T, Ueki M, Narita A, Murakami K, Orui M, Ishikuro M, Obara T; Tohoku Medical Megabank Project Study Group; Kuriyama S, Yamamoto M, Tamiya G. Takayama J, et al. Clin Genet. 2024 May 8. doi: 10.1111/cge.14536. Online ahead of print. Clin Genet. 2024. PMID: 38719617
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: takayama j. 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.
196 results