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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, Hurles ME, Dittrich S, Berger F, Audain Martinez E, Christoffels VM, Hitz MP, Milewicz DM, Posthuma D, Meijers-Heijboer H, Postma AV, Mathijssen IB. van Walree ES, et al. Among authors: postma av. Genet Med. 2021 Jan;23(1):103-110. doi: 10.1038/s41436-020-00939-4. Epub 2020 Aug 21. Genet Med. 2021. PMID: 32820247 Free PMC article.
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
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. Among authors: postma av. 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.
Developmental aspects of cardiac arrhythmogenesis.
Postma AV, Christoffels VM, Bezzina CR. Postma AV, et al. Cardiovasc Res. 2011 Jul 15;91(2):243-51. doi: 10.1093/cvr/cvr134. Epub 2011 May 12. Cardiovasc Res. 2011. PMID: 21565834 Review.
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. Among authors: postma av. 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.
79 results