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Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: breur hm. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH, Herkert JC, den Boer SL, du Marchie Sarvaas GJ, Blom NA, Ten Harkel ADJ, Breur HMPJ, Rammeloo LAJ, Tanke RB, Marcelis C, van de Laar IMBH, Verhagen JMA, Lekanne Dit Deprez RH, Barge-Schaapveld DQCM, Baas AF, Sammani A, Christiaans I, van Tintelen JP, Dalinghaus M. van der Meulen MH, et al. Among authors: breur hmpj. Circ Genom Precis Med. 2022 Oct;15(5):e002981. doi: 10.1161/CIRCGEN.120.002981. Epub 2022 Sep 30. Circ Genom Precis Med. 2022. PMID: 36178741 Free PMC article.
Predicting outcome in children with dilated cardiomyopathy: the use of repeated measurements of risk factors for outcome.
van der Meulen M, den Boer S, du Marchie Sarvaas GJ, Blom N, Ten Harkel ADJ, Breur HMPJ, Rammeloo LAJ, Tanke R, Bogers AJJC, Helbing WA, Boersma E, Dalinghaus M. van der Meulen M, et al. Among authors: breur hmpj. ESC Heart Fail. 2021 Apr;8(2):1472-1481. doi: 10.1002/ehf2.13233. Epub 2021 Feb 5. ESC Heart Fail. 2021. PMID: 33547769 Free PMC article.
15 results