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Page 1
A SNP in the ABCC11 gene is the determinant of human earwax type.
Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N. Yoshiura K, et al. Among authors: kaname t. Nat Genet. 2006 Mar;38(3):324-30. doi: 10.1038/ng1733. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444273
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S. Imanishi R, et al. Among authors: kaname t. Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w. Hum Genome Var. 2023. PMID: 37280227 Free PMC article.
STAT6 gain-of-function variant exacerbates multiple allergic symptoms.
Takeuchi I, Yanagi K, Takada S, Uchiyama T, Igarashi A, Motomura K, Hayashi Y, Nagano N, Matsuoka R, Sugiyama H, Yoshioka T, Saito H, Kawai T, Miyaji Y, Inuzuka Y, Matsubara Y, Ohya Y, Shimizu T, Matsumoto K, Arai K, Nomura I, Kaname T, Morita H. Takeuchi I, et al. Among authors: kaname t. J Allergy Clin Immunol. 2023 May;151(5):1402-1409.e6. doi: 10.1016/j.jaci.2022.12.802. Epub 2022 Dec 17. J Allergy Clin Immunol. 2023. PMID: 36538978
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata A, Suyama M, Kikugawa S, Matoba R, Naruto T, Enomoto Y, Kurosawa K, Harada N, Yanagi K, Kaname T, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O. Hijikata A, et al. Among authors: kaname t. Nucleic Acids Res. 2024 Jan 11;52(1):114-124. doi: 10.1093/nar/gkad1140. Nucleic Acids Res. 2024. PMID: 38015437 Free PMC article.
HIST1H1E syndrome with deficiency in multiple pituitary hormones.
Tanabe Y, Nomura N, Minami M, Takaya J, Okamoto N, Yanagi K, Kaname T, Fujii Y, Kaneko K. Tanabe Y, et al. Among authors: kaname t. Clin Pediatr Endocrinol. 2023;32(3):195-198. doi: 10.1297/cpe.2023-0002. Epub 2023 Mar 7. Clin Pediatr Endocrinol. 2023. PMID: 37362168 Free PMC article. No abstract available.
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. Miyake N, et al. Among authors: kaname t. Am J Med Genet A. 2005 May 15;135(1):103-5. doi: 10.1002/ajmg.a.30637. Am J Med Genet A. 2005. PMID: 15723327 Free article. No abstract available.
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: kaname t. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044
169 results