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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: bowles ne. 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
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.
Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA; Noncompaction study collaborators. Chen R, et al. Among authors: bowles kr, bowles ne. Mol Genet Metab. 2002 Dec;77(4):319-25. doi: 10.1016/s1096-7192(02)00195-6. Mol Genet Metab. 2002. PMID: 12468278
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.
Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA. Xing Y, et al. Among authors: bowles kr, bowles ne. Mol Genet Metab. 2006 May;88(1):71-7. doi: 10.1016/j.ymgme.2005.11.009. Epub 2006 Jan 19. Mol Genet Metab. 2006. PMID: 16427346
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. Among authors: bowles ne. 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
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.
Takasaki A, Hirono K, Hata Y, Wang C, Takeda M, Yamashita JK, Chang B, Nakaoka H, Okabe M, Miyao N, Saito K, Ibuki K, Ozawa S, Sekine M, Yoshimura N, Nishida N, Bowles NE, Ichida F. Takasaki A, et al. Among authors: bowles ne. Pediatr Res. 2018 Nov;84(5):733-742. doi: 10.1038/s41390-018-0162-1. Epub 2018 Sep 6. Pediatr Res. 2018. PMID: 30188508
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Wang C, Hata Y, Hirono K, Takasaki A, Ozawa SW, Nakaoka H, Saito K, Miyao N, Okabe M, Ibuki K, Nishida N, Origasa H, Yu X, Bowles NE, Ichida F; for LVNC Study Collaborators. Wang C, et al. Among authors: bowles ne. J Am Heart Assoc. 2017 Aug 30;6(9):e006210. doi: 10.1161/JAHA.117.006210. J Am Heart Assoc. 2017. PMID: 28855170 Free PMC article.
Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.
Hirono K, Hata Y, Nakazawa M, Momoi N, Tsuji T, Matsuoka T, Ayusawa M, Abe Y, Hayashi T, Tsujii N, Abe T, Sakaguchi H, Wang C, Takasaki A, Takarada S, Okabe M, Miyao N, Nakaoka H, Ibuki K, Saito K, Ozawa S, Nishida N, Bowles NE, Ichida F. Hirono K, et al. Among authors: bowles ne. Circ J. 2018 Sep 25;82(10):2609-2618. doi: 10.1253/circj.CJ-18-0470. Epub 2018 Aug 18. Circ J. 2018. PMID: 30122738 Free article.
138 results