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Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S. Kaneyasu T, et al. Among authors: matsumoto n. NPJ Breast Cancer. 2020 Jun 12;6:25. doi: 10.1038/s41523-020-0163-1. eCollection 2020. NPJ Breast Cancer. 2020. PMID: 32566746 Free PMC article.
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, Nakajima Y, Takase-Minegishi K, Yoshimi R, Miyazaki T, Hagihara M, Yamazaki E, Kirino Y, Matsumoto N, Nakajima H. Kunimoto H, et al. Among authors: matsumoto n. Int J Hematol. 2023 Oct;118(4):494-502. doi: 10.1007/s12185-023-03598-8. Epub 2023 Apr 17. Int J Hematol. 2023. PMID: 37062784
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: matsumoto n. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free article.
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Sakai H, et al. Among authors: matsumoto n. Am J Med Genet A. 2006 Aug 15;140(16):1719-25. doi: 10.1002/ajmg.a.31353. Am J Med Genet A. 2006. PMID: 16835936
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: matsumoto n. Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18. Epilepsia. 2012. PMID: 22709267 Free article.
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: matsumoto n. Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10. Epilepsia. 2013. PMID: 23662938 Free article.
3,251 results