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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: tomita h. Nat Genet. 2006 Mar;38(3):324-30. doi: 10.1038/ng1733. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444273
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N. Kikuchi T, et al. Among authors: tomita h. J Hum Genet. 2007;52(4):334-341. doi: 10.1007/s10038-007-0116-7. Epub 2007 Feb 14. J Hum Genet. 2007. PMID: 17387577
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. Among authors: tomita h. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141
Usefulness of intracardiac echocardiography-guided mapping of the tricuspid annulus in ablating the right free wall accessory pathway.
Negishi K, Okumura K, Onishi F, Yoshimura A, Okamatsu H, Tsurugi T, Tanaka Y, Sakai Y, Nakao K, Sakamoto T, Koyama J, Tomita H. Negishi K, et al. Among authors: tomita h. J Interv Card Electrophysiol. 2024 May 3. doi: 10.1007/s10840-024-01792-0. Online ahead of print. J Interv Card Electrophysiol. 2024. PMID: 38700612 No abstract available.
The first lichen planus case coexisting bronchiolitis obliterans without malignant tumors.
Nikaido T, Tanino Y, Sato Y, Togawa R, Watanabe N, Wang X, Fukuhara N, Harigane R, Saito K, Kazama K, Yamada R, Sato R, Tomita H, Rikimaru M, Suzuki Y, Minemura H, Saito J, Kanazawa K, Yamamoto T, Hashimoto Y, Hebisawa A, Shibata Y. Nikaido T, et al. Among authors: tomita h. Pathol Int. 2024 Apr 23. doi: 10.1111/pin.13432. Online ahead of print. Pathol Int. 2024. PMID: 38651922 No abstract available.
1,510 results