Similar articles for PMID: 30235249

Year	Number of Results
1994	1
1998	2
2000	1
2001	1
2002	4
2003	3
2004	2
2005	4
2006	3
2007	3
2008	4
2009	3
2010	3
2011	2
2012	3
2013	4
2014	8
2015	7
2016	7
2017	7
2018	5
2019	7
2020	7
2021	9
2022	6
2023	5
2024	0

1

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

Vanninen SUM, Leivo K, Seppälä EH, Aalto-Setälä K, Pitkänen O, Suursalmi P, Annala AP, Anttila I, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW. Vanninen SUM, et al. PLoS One. 2018 Sep 20;13(9):e0203422. doi: 10.1371/journal.pone.0203422. eCollection 2018. PLoS One. 2018. PMID: 30235249 Free PMC article. Clinical Trial.

2

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Landstrom AP, et al. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. doi: 10.1016/j.yjmcc.2007.04.006. Epub 2007 Apr 18. J Mol Cell Cardiol. 2007. PMID: 17509612 Free PMC article.

3

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP. Jones EG, et al. Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6. Sci Rep. 2019. PMID: 31227780 Free PMC article.

4

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

Nomura A, Tada H, Teramoto R, Konno T, Hodatsu A, Won HH, Kathiresan S, Ino H, Fujino N, Yamagishi M, Hayashi K. Nomura A, et al. J Cardiol. 2016 Feb;67(2):133-9. doi: 10.1016/j.jjcc.2015.09.003. Epub 2015 Oct 9. J Cardiol. 2016. PMID: 26443374 Free article.

5

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

Quick AP, Landstrom AP, Wang Q, Beavers DL, Reynolds JO, Barreto-Torres G, Tran V, Showell J, Philippen LE, Morris SA, Skapura D, Bos JM, Pedersen SE, Pautler RG, Ackerman MJ, Wehrens XH. Quick AP, et al. JACC Basic Transl Sci. 2017 Feb;2(1):56-67. doi: 10.1016/j.jacbts.2016.11.004. JACC Basic Transl Sci. 2017. PMID: 28393127 Free PMC article.

6

Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

Zhao Y, Cao H, Song Y, Feng Y, Ding X, Pang M, Zhang Y, Zhang H, Ding J, Xia X. Zhao Y, et al. Int J Mol Med. 2016 Jun;37(6):1511-20. doi: 10.3892/ijmm.2016.2565. Epub 2016 Apr 14. Int J Mol Med. 2016. PMID: 27082122 Free PMC article.

7

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

Zhao Y, Feng Y, Ding X, Dong S, Zhang H, Ding J, Xia X. Zhao Y, et al. Int J Mol Med. 2017 Jul;40(1):121-129. doi: 10.3892/ijmm.2017.2986. Epub 2017 May 11. Int J Mol Med. 2017. PMID: 28498465 Free PMC article.

8

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M. Jääskeläinen P, et al. J Mol Med (Berl). 2002 Jul;80(7):412-22. doi: 10.1007/s00109-002-0323-9. Epub 2002 Apr 11. J Mol Med (Berl). 2002. PMID: 12110947

9

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

Mouton JM, Pellizzon AS, Goosen A, Kinnear CJ, Herbst PG, Brink PA, Moolman-Smook JC. Mouton JM, et al. Cardiovasc J Afr. 2015 Mar-Apr;26(2):63-9. doi: 10.5830/CVJA-2015-019. Cardiovasc J Afr. 2015. PMID: 25940119 Free PMC article.

10

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I. Girolami F, et al. Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30. Circ Cardiovasc Genet. 2014. PMID: 25173926

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