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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 7. doi: 10.1038/s41588-024-01735-5. Online ahead of print. Nat Genet. 2024. PMID: 38714868
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: kikuchi a. 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.
Successful excision of an inflammatory endobronchial polyp using biopsy forceps with improvement in FEV1 in a patient with allergic bronchopulmonary aspergillosis: A case report.
Kashizaki F, Konishi K, Yamada C, Okazaki S, Chen H, Miyasaka A, Tsuchiya N, Kikuchi A, Yumoto K, Kojima Y, Osawa H, Koizumi H, Takahashi K, Kaneko T. Kashizaki F, et al. Among authors: kikuchi a. Respir Med Case Rep. 2024 Mar 11;48:102011. doi: 10.1016/j.rmcr.2024.102011. eCollection 2024. Respir Med Case Rep. 2024. PMID: 38510660 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: kikuchi a. Front Pediatr. 2024 Mar 5;12:1340263. doi: 10.3389/fped.2024.1340263. eCollection 2024. Front Pediatr. 2024. PMID: 38510083 Free PMC article.
1,708 results