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Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. Bastepe M, et al. Among authors: sugimoto t. Hum Mol Genet. 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. Hum Mol Genet. 2001. PMID: 11406605
Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: sugimoto t. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
Distal 14q trisomy due to a maternal derivative chromosome 14.
Sonoda T, Kouno K, Sawada K, Sugimoto T. Sonoda T, et al. Among authors: sugimoto t. Pediatr Int. 2001 Jun;43(3):313-5. doi: 10.1046/j.1442-200x.2001.01376.x. Pediatr Int. 2001. PMID: 11380933 No abstract available.
Cutoffs on severity metrics for minimal manifestations or better status in patients with generalized myasthenia gravis.
Watanabe G, Takai Y, Nagane Y, Kubota T, Yasuda M, Akamine H, Onishi Y, Uzawa A, Kawaguchi N, Masuda M, Konno S, Amino I, Minami N, Kimura T, Samukawa M, Sugimoto T, Suzuki Y, Takahashi MP, Suzuki S, Murai H, Aoki M, Utsugisawa K. Watanabe G, et al. Among authors: sugimoto t. Front Immunol. 2024 Dec 23;15:1502721. doi: 10.3389/fimmu.2024.1502721. eCollection 2024. Front Immunol. 2024. PMID: 39763650 Free PMC article.
Invasive mucinous adenocarcinoma harbored MET exon 14 skipping mutation: case report.
Washioka A, Akamatsu H, Sugimoto T, Kitahara D, Kaki T, Murakami E, Hayata A, Iwamoto R, Yamamoto N. Washioka A, et al. Among authors: sugimoto t. Transl Lung Cancer Res. 2024 Nov 30;13(11):3252-3255. doi: 10.21037/tlcr-24-449. Epub 2024 Nov 12. Transl Lung Cancer Res. 2024. PMID: 39669996 Free PMC article.
3,554 results