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Year | Number of Results |
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2011 | 1 |
2012 | 1 |
2013 | 2 |
2017 | 1 |
2024 | 0 |
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5 results
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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ.
Kapplinger JD, et al.
J Am Coll Cardiol. 2011 Jun 7;57(23):2317-27. doi: 10.1016/j.jacc.2010.12.036.
J Am Coll Cardiol. 2011.
PMID: 21636032
Free PMC article.
Item in Clipboard
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.
Groeneweg JA, et al.
Am J Cardiol. 2013 Oct 15;112(8):1197-206. doi: 10.1016/j.amjcard.2013.06.017. Epub 2013 Jul 19.
Am J Cardiol. 2013.
PMID: 23871674
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Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Kirchner F, Schuetz A, Boldt LH, Martens K, Dittmar G, Haverkamp W, Thierfelder L, Heinemann U, Gerull B.
Kirchner F, et al.
Circ Cardiovasc Genet. 2012 Aug 1;5(4):400-11. doi: 10.1161/CIRCGENETICS.111.961854. Epub 2012 Jul 9.
Circ Cardiovasc Genet. 2012.
PMID: 22781308
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Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ.
Gerull B, et al.
Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17.
Circ Cardiovasc Genet. 2013.
PMID: 23863954
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