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Page 1
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: boven lg. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: boven lg. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. van Tintelen JP, et al. Among authors: boven lg. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM, Pinto YM. van Tintelen JP, et al. Among authors: boven lg. J Am Coll Cardiol. 2007 Jun 26;49(25):2430-9. doi: 10.1016/j.jacc.2007.02.063. Epub 2007 Jun 11. J Am Coll Cardiol. 2007. PMID: 17599607 Free article.
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, van Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, Veenstra-Knol HE, Saffitz JE, Hofstra RM, van den Berg MP. van Tintelen JP, et al. Heart Rhythm. 2009 Nov;6(11):1574-83. doi: 10.1016/j.hrthm.2009.07.041. Epub 2009 Jul 28. Heart Rhythm. 2009. PMID: 19879535
Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JD, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RN, van den Berg MP, Hofstra RM, te Meerman GJ. van der Zwaag PA, et al. Among authors: boven lg. Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x. Clin Genet. 2011. PMID: 20573160
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
van Spaendonck-Zwarts KY, van der Kooi AJ, van den Berg MP, Ippel EF, Boven LG, Yee WC, van den Wijngaard A, Brusse E, Hoogendijk JE, Doevendans PA, de Visser M, Jongbloed JD, van Tintelen JP. van Spaendonck-Zwarts KY, et al. Among authors: boven lg. Neth Heart J. 2012 May;20(5):219-28. doi: 10.1007/s12471-011-0233-y. Neth Heart J. 2012. PMID: 22215463 Free PMC article.
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
Bolling MC, Jongbloed JDH, Boven LG, Diercks GFH, Smith FJD, Irwin McLean WH, Jonkman MF. Bolling MC, et al. Among authors: boven lg. J Invest Dermatol. 2014 Jan;134(1):273-276. doi: 10.1038/jid.2013.277. Epub 2013 Jun 17. J Invest Dermatol. 2014. PMID: 23774525 Free article. No abstract available.
30 results