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Items: 1 to 20 of 101

1.

14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum.

Chang B, Gorbea C, Lezin G, Li L, Shan L, Sakai N, Kogaki S, Otomo T, Okinaga T, Hamaoka A, Yu X, Hata Y, Nishida N, Yost HJ, Bowles NE, Brunelli L, Ichida F.

Gene. 2013 Feb 15;515(1):173-80. doi: 10.1016/j.gene.2012.12.049. Epub 2012 Dec 20.

PMID:
23266643
2.

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.

Mol Genet Metab. 2011 Feb;102(2):200-6. doi: 10.1016/j.ymgme.2010.09.009. Epub 2010 Sep 29.

PMID:
20965760
3.

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.

Mol Genet Metab. 2006 May;88(1):71-7. Epub 2006 Jan 19.

PMID:
16427346
4.

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, Rousson R, Millat G.

Eur J Med Genet. 2014 Mar;57(4):129-32. doi: 10.1016/j.ejmg.2014.02.015. Epub 2014 Mar 4.

PMID:
24602869
5.

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.

Mol Genet Metab. 2010 Jun;100(2):198-203. doi: 10.1016/j.ymgme.2010.02.021. Epub 2010 Mar 2.

PMID:
20303308
6.

A novel MYH7 gene mutation in a fetus with left ventricular noncompaction.

Nomura Y, Momoi N, Hirono K, Hata Y, Takasaki A, Nishida N, Ichida F.

Can J Cardiol. 2015 Jan;31(1):103.e1-3. doi: 10.1016/j.cjca.2014.11.012. Epub 2014 Nov 15.

PMID:
25547560
7.

Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.

Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D.

Pediatr Cardiol. 2013 Feb;34(2):452-4. doi: 10.1007/s00246-012-0294-8. Epub 2012 Mar 25.

PMID:
22447382
8.

A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

Tian T, Wang J, Wang H, Sun K, Wang Y, Jia L, Zou Y, Hui R, Zhou X, Song L.

Heart Vessels. 2015 Mar;30(2):258-64. doi: 10.1007/s00380-014-0503-x. Epub 2014 Apr 2.

PMID:
24691700
9.

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.

Shan L, Makita N, Xing Y, Watanabe S, Futatani T, Ye F, Saito K, Ibuki K, Watanabe K, Hirono K, Uese K, Ichida F, Miyawaki T, Origasa H, Bowles NE, Towbin JA.

Mol Genet Metab. 2008 Apr;93(4):468-74.

PMID:
18368697
10.

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26.

PMID:
19635726
11.

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.

Yang J, Zhu M, Wang Y, Hou X, Wu H, Wang D, Shen H, Hu Z, Zou J.

Gene. 2015 Mar 1;558(1):138-42. doi: 10.1016/j.gene.2014.12.061. Epub 2014 Dec 27.

PMID:
25550050
12.

Peroxisome proliferator-activated receptor-delta upregulates 14-3-3 epsilon in human endothelial cells via CCAAT/enhancer binding protein-beta.

Brunelli L, Cieslik KA, Alcorn JL, Vatta M, Baldini A.

Circ Res. 2007 Mar 16;100(5):e59-71. Epub 2007 Feb 15.

13.

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny DM, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs RA, Jefferies JL.

Circ Cardiovasc Genet. 2015 Aug;8(4):544-52. doi: 10.1161/CIRCGENETICS.115.001026. Epub 2015 May 29.

14.

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.

Luedde M, Ehlermann P, Weichenhan D, Will R, Zeller R, Rupp S, Müller A, Steen H, Ivandic BT, Ulmer HE, Kern M, Katus HA, Frey N.

Cardiovasc Res. 2010 Jun 1;86(3):452-60. doi: 10.1093/cvr/cvq009. Epub 2010 Jan 18.

PMID:
20083571
15.

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.

Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, Ushinohama H, Makita N, Horie M.

Europace. 2014 Nov;16(11):1646-54. doi: 10.1093/europace/eut382. Epub 2014 Jan 6.

PMID:
24394973
16.

Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.

Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K, Liu Y, Zhou X.

Clin Chim Acta. 2017 Feb;465:40-44. doi: 10.1016/j.cca.2016.12.013. Epub 2016 Dec 15. Review.

PMID:
27989498
17.

Left ventricular noncompaction.

Ichida F.

Circ J. 2009 Jan;73(1):19-26. Epub 2008 Dec 4. Review.

18.

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

Tang S, Batra A, Zhang Y, Ebenroth ES, Huang T.

Mitochondrion. 2010 Jun;10(4):350-7. doi: 10.1016/j.mito.2010.02.003. Epub 2010 Mar 6.

PMID:
20211276
19.

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA.

Circulation. 2001 Mar 6;103(9):1256-63.

20.

14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle.

Kosaka Y, Cieslik KA, Li L, Lezin G, Maguire CT, Saijoh Y, Toyo-oka K, Gambello MJ, Vatta M, Wynshaw-Boris A, Baldini A, Yost HJ, Brunelli L.

Mol Cell Biol. 2012 Dec;32(24):5089-102. doi: 10.1128/MCB.00829-12. Epub 2012 Oct 15.

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