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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: kikuchi a. Genet Med. 2024 May 16:101165. doi: 10.1016/j.gim.2024.101165. Online ahead of print. Genet Med. 2024. PMID: 38762772 Free article.
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: kikuchi a. 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
A prediction model of abnormal acid reflux in gastroesophageal reflux disease.
Sonoda M, Matsumura T, Dao HV, Shiko Y, Do PN, Nguyen BP, Okimoto K, Akizue N, Ohyama Y, Mamiya Y, Nakazawa H, Takahashi S, Horio R, Goto C, Kurosugi A, Kaneko T, Ohta Y, Saito K, Taida T, Kikuchi A, Fujie M, Kato J, Dao LV, Kato N. Sonoda M, et al. Among authors: kikuchi a. J Gastroenterol Hepatol. 2024 May 15. doi: 10.1111/jgh.16602. Online ahead of print. J Gastroenterol Hepatol. 2024. PMID: 38747056
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.
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.
1,711 results