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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: hasegawa t. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949
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: hasegawa t. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
A molecular deletion study with southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11-12 and on an atypical PWS patient with apparently normal karyotype.
Kamei T, Hamabe JI, Matsumoto T, Abe K, Harada N, Ishikiriyama S, Hasegawa T, Miyazaki K, Mizuno S, Narahara K, et al. Kamei T, et al. Among authors: hasegawa t. Jinrui Idengaku Zasshi. 1988 Dec;33(4):477-86. doi: 10.1007/BF01897789. Jinrui Idengaku Zasshi. 1988. PMID: 2907997 No abstract available.
TDP-43 transports ferritin heavy chain mRNA to regulate oxidative stress in neuronal axons.
Jinno J, Abdelhamid RF, Morita J, Saga R, Yamasaki Y, Kadowaki A, Ogawa K, Kimura Y, Ikenaka K, Beck G, Baba K, Nagai Y, Kasahara E, Sekiyama A, Hirayama T, Hozumi I, Hasegawa T, Araki T, Mochizuki H, Nagano S. Jinno J, et al. Among authors: hasegawa t. Neurochem Int. 2025 Jan 17:105934. doi: 10.1016/j.neuint.2025.105934. Online ahead of print. Neurochem Int. 2025. PMID: 39827940
Influence of obtaining medical records and laboratory data on the sensitivity of diagnostic imaging assessment by radiological technologists.
Koori N, Kato T, Yamamoto S, Yasui M, Kurata K, Hasegawa T, Nishikawa F, Sugiyama M, Ishiguro R, Takamatsu Y, Higuchi M, Kobayashi H, Nakane H, Fuse H, Sasaki K, Miyakawa S, Yasue K, Takahashi M, Nosaka N. Koori N, et al. Among authors: hasegawa t. Radiol Phys Technol. 2025 Jan 16. doi: 10.1007/s12194-025-00880-8. Online ahead of print. Radiol Phys Technol. 2025. PMID: 39821066
6,498 results