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180 results

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Page 1
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B, Nishizawa T, Furutani M, Fujiki A, Tani M, Kawaguchi M, Ibuki K, Hirono K, Taneichi H, Uese K, Onuma Y, Bowles NE, Ichida F, Inoue H, Matsuoka R, Miyawaki T; Noncompaction study collaborators. Chang B, et al. Among authors: furutani m. Mol Genet Metab. 2011 Feb;102(2):200-6. doi: 10.1016/j.ymgme.2010.09.009. Epub 2010 Sep 29. Mol Genet Metab. 2011. PMID: 20965760
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
Chang B, Momoi N, Shan L, Mitomo M, Aoyagi Y, Endo K, Takeda I, Chen R, Xing Y, Yu X, Watanabe S, Yoshida T, Kanegane H, Tsubata S, Bowles NE, Ichida F, Miyawaki T; Noncompaction study collaborators. Chang B, et al. Mol Genet Metab. 2010 Jun;100(2):198-203. doi: 10.1016/j.ymgme.2010.02.021. Epub 2010 Mar 2. Mol Genet Metab. 2010. PMID: 20303308
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, Furutani M, Furutani Y, Kawamura Y, Sugimoto M, Ishihara J, Fujiwara M, Soga T, Kawana M, Fuji S, Tateno S, Kuraishi K, Kogaki S, Nishimura M, Ayusawa M, Ichida F, Yamazawa H, Matsuoka R, Nonoyama S, Nakanishi T. Chida A, et al. Among authors: furutani m, furutani y. Heart Vessels. 2017 Jun;32(6):700-707. doi: 10.1007/s00380-016-0920-0. Epub 2016 Nov 24. Heart Vessels. 2017. PMID: 27885498
Characterization of a novel KRAS mutation identified in Noonan syndrome.
Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: furutani m. Am J Med Genet A. 2012 Mar;158A(3):524-32. doi: 10.1002/ajmg.a.34419. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302539
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: furutani m. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603482
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G, Hayama E, Yamazawa H, Inai K, Shimada M, Furutani M, Nishizawa T, Furutani Y, Matsuoka R, Nakanishi T. Izumi G, et al. Among authors: furutani m, furutani y. Pediatr Cardiol. 2016 Jun;37(5):962-70. doi: 10.1007/s00246-016-1378-7. Epub 2016 Apr 4. Pediatr Cardiol. 2016. PMID: 27041096
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. Dhandapany PS, et al. Among authors: furutani m. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777450 Free PMC article.
180 results