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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19.
J Med Genet. 2013.
PMID: 23785128
Free PMC article.
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
van de Meerakker JB, Christiaans I, Barnett P, Lekanne Deprez RH, Ilgun A, Mook OR, Mannens MM, Lam J, Wilde AA, Moorman AF, Postma AV.
van de Meerakker JB, et al.
Biochim Biophys Acta. 2013 Apr;1833(4):833-9. doi: 10.1016/j.bbamcr.2012.11.003. Epub 2012 Nov 9.
Biochim Biophys Acta. 2013.
PMID: 23147248
Free article.
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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
van de Meerakker JB, van Engelen K, Mathijssen IB, Lekanne dit Deprez RH, Lam J, Wilde AA, Baars MJ, Mannens MM, Mulder BJ, Moorman AF, Postma AV.
van de Meerakker JB, et al.
Eur J Hum Genet. 2011 Jul;19(7):820-6. doi: 10.1038/ejhg.2011.33. Epub 2011 Mar 9.
Eur J Hum Genet. 2011.
PMID: 21386876
Free PMC article.
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A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.
Postma AV, et al. Among authors: van de meerakker jb.
Circ Res. 2008 Jun 6;102(11):1433-42. doi: 10.1161/CIRCRESAHA.107.168294. Epub 2008 May 1.
Circ Res. 2008.
PMID: 18451335
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Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S.
Postma AV, et al.
Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2.
Circ Cardiovasc Genet. 2011.
PMID: 21127202
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Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen K, Postma AV, van de Meerakker JB, Roos-Hesselink JW, Helderman-van den Enden AT, Vliegen HW, Rahman T, Baars MJ, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AF, Keavney B, Goodship J, Klaassen S, Mulder BJ.
van Engelen K, et al. Among authors: van de meerakker jb.
Neth Heart J. 2013 Mar;21(3):113-7. doi: 10.1007/s12471-011-0141-1.
Neth Heart J. 2013.
PMID: 21604106
Free PMC article.
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No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux.
Giltay JC, van de Meerakker J, van Amstel HK, de Jong TP.
Giltay JC, et al.
J Urol. 2004 Feb;171(2 Pt 1):931-2. doi: 10.1097/01.ju.0000094802.50650.3d.
J Urol. 2004.
PMID: 14713856
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