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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
1994 2
1995 2
1996 3
1997 4
1998 8
1999 4
2000 1
2001 4
2002 2
2003 1
2004 1
2005 2
2006 5
2007 2
2009 3
2010 2
2011 3
2012 6
2013 5
2014 5
2015 3
2016 1
2017 7
2018 10
2019 15
2020 21
2021 23
2022 21
2023 14
2024 11

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169 results

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Page 1
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
Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
Kuro-o M, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, Utsugi T, Ohyama Y, Kurabayashi M, Kaname T, Kume E, Iwasaki H, Iida A, Shiraki-Iida T, Nishikawa S, Nagai R, Nabeshima YI. Kuro-o M, et al. Among authors: kaname t. Nature. 1997 Nov 6;390(6655):45-51. doi: 10.1038/36285. Nature. 1997. PMID: 9363890
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: kaname t. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Okamoto N, et al. Among authors: kaname t. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293
HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: kaname t. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond.
STAT6 Gain-of-Function International Consortium. Electronic address: sturvey@bcchr.ca; STAT6 Gain-of-Function International Consortium. STAT6 Gain-of-Function International Consortium. Electronic address: sturvey@bcchr.ca, et al. Trends Immunol. 2024 Feb;45(2):138-153. doi: 10.1016/j.it.2023.12.003. Epub 2024 Jan 17. Trends Immunol. 2024. PMID: 38238227 Review.
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: kaname t. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
Diagnostic delay of MYH9-related disorder in Japan.
Sakamoto A, Uchiyama T, Kaname T, Iguchi A, Ohara O, Ishimura M, Onum M, Kunishima S, Ishiguro A. Sakamoto A, et al. Among authors: kaname t. Br J Haematol. 2024 Apr 22. doi: 10.1111/bjh.19484. Online ahead of print. Br J Haematol. 2024. PMID: 38650331
169 results