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Items: 1 to 20 of 77

1.

Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.

van der Zwaag PA, van Rijsingen IA, de Ruiter R, Nannenberg EA, Groeneweg JA, Post JG, Hauer RN, van Gelder IC, van den Berg MP, van der Harst P, Wilde AA, van Tintelen JP.

Neth Heart J. 2013 Jun;21(6):286-93. doi: 10.1007/s12471-013-0401-3.

2.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.

Groeneweg JA, van der Zwaag PA, Olde Nordkamp LR, Bikker H, Jongbloed JD, Jongbloed R, Wiesfeld AC, Cox MG, van der Heijden JF, Atsma DE, de Boer K, Doevendans PA, Vink A, van Veen TA, Dooijes D, van den Berg MP, Wilde AA, van Tintelen JP, Hauer RN.

Am J Cardiol. 2013 Oct 15;112(8):1197-206. doi: 10.1016/j.amjcard.2013.06.017. Epub 2013 Jul 19.

PMID:
23871674
3.

Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes and autophagic degradation.

Te Rijdt WP, van Tintelen JP, Vink A, van der Wal AC, de Boer RA, van den Berg MP, Suurmeijer AJ.

Histopathology. 2016 Mar 11. doi: 10.1111/his.12963. [Epub ahead of print]

PMID:
26970417
4.

High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy.

Gho JM, van Es R, Stathonikos N, Harakalova M, te Rijdt WP, Suurmeijer AJ, van der Heijden JF, de Jonge N, Chamuleau SA, de Weger RA, Asselbergs FW, Vink A.

PLoS One. 2014 Apr 14;9(4):e94820. doi: 10.1371/journal.pone.0094820. eCollection 2014.

5.

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP.

Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20.

6.

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN.

Heart Rhythm. 2013 Apr;10(4):548-59. doi: 10.1016/j.hrthm.2012.12.020. Epub 2012 Dec 25.

PMID:
23270881
7.

Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.

Posch MG, Perrot A, Geier C, Boldt LH, Schmidt G, Lehmkuhl HB, Hetzer R, Dietz R, Gutberlet M, Haverkamp W, Ozcelik C.

Heart Rhythm. 2009 Apr;6(4):480-6. doi: 10.1016/j.hrthm.2009.01.016. Epub 2009 Jan 18.

PMID:
19324307
8.

The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy.

van der Heijden JF, Hassink RJ.

Neth Heart J. 2013 Jun;21(6):284-5. doi: 10.1007/s12471-013-0413-z. No abstract available.

9.

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

van den Wijngaard A, Volders P, Van Tintelen JP, Jongbloed JD, van den Berg MP, Lekanne Deprez RH, Mannens MM, Hofmann N, Slegtenhorst M, Dooijes D, Michels M, Arens Y, Jongbloed R, Smeets BJ.

Neth Heart J. 2011 Aug;19(7-8):344-51. doi: 10.1007/s12471-011-0135-z.

10.

Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.

van der Zwaag PA, Cox MG, van der Werf C, Wiesfeld AC, Jongbloed JD, Dooijes D, Bikker H, Jongbloed R, Suurmeijer AJ, van den Berg MP, Hofstra RM, Hauer RN, Wilde AA, van Tintelen JP.

Neth Heart J. 2010 Dec;18(12):583-91.

11.

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.

DeWitt MM, MacLeod HM, Soliven B, McNally EM.

J Am Coll Cardiol. 2006 Oct 3;48(7):1396-8. Epub 2006 Sep 12.

12.

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP.

Circ Cardiovasc Genet. 2009 Oct;2(5):418-27. doi: 10.1161/CIRCGENETICS.108.839829. Epub 2009 Aug 1.

13.

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R.

BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0.

14.

Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation.

López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR.

Rev Esp Cardiol (Engl Ed). 2015 Apr;68(4):346-9. doi: 10.1016/j.rec.2014.11.012. Epub 2015 Feb 17. No abstract available.

PMID:
25700660
15.

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

Fish M, Shaboodien G, Kraus S, Sliwa K, Seidman CE, Burke MA, Crotti L, Schwartz PJ, Mayosi BM.

Sci Rep. 2016 Feb 26;6:22235. doi: 10.1038/srep22235.

16.

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A.

Heart Rhythm. 2010 Jan;7(1):22-9. doi: 10.1016/j.hrthm.2009.09.070. Epub 2009 Oct 12.

PMID:
20129281
17.

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Hofman N, Jongbloed R, Postema PG, Nannenberg E, Alders M, Wilde AA.

Neth Heart J. 2011 Jan;19(1):10-16. Epub 2010 Dec 17.

18.

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP.

J Am Coll Cardiol. 2006 Oct 3;48(7):1416-24. Epub 2006 Sep 12.

19.

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M.

Eur Heart J. 2003 Oct;24(20):1848-53.

20.

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

Hensen EF, van Duinen N, Jansen JC, Corssmit EP, Tops CM, Romijn JA, Vriends AH, van der Mey AG, Cornelisse CJ, Devilee P, Bayley JP.

Clin Genet. 2012 Mar;81(3):284-8. doi: 10.1111/j.1399-0004.2011.01653.x. Epub 2011 Mar 15.

PMID:
21348866
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