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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.
Demirdas S, van Slegtenhorst MA, Verdijk RM, Lee M, van den Hout HMP, Wessels MW, Frohn-Mulder IME, Gardeitchik T, van der Ploeg AT, Schaaf GJ. Demirdas S, et al. Among authors: van den hout hmp, van der ploeg at, van slegtenhorst ma. Circ Genom Precis Med. 2019 Mar;12(3):e002395. doi: 10.1161/CIRCGEN.118.002395. Circ Genom Precis Med. 2019. PMID: 30919683 No abstract available.
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: van stuijvenberg m, van spaendonck zwarts ky, van slegtenhorst ma, van ijcken wf, van der smagt jj, van der zwaag pa, van tintelen jp, van de laar im. 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.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study; Lord CJ, Vissers LE, de Vries BB. Jansen S, et al. Among authors: van slegtenhorst ma. Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343630 Free PMC article.
Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.
van Velzen HG, Schinkel AFL, Oldenburg RA, van Slegtenhorst MA, Frohn-Mulder IME, van der Velden J, Michels M. van Velzen HG, et al. Among authors: van slegtenhorst ma, van der velden j. Circ Cardiovasc Genet. 2017 Aug;10(4):e001660. doi: 10.1161/CIRCGENETICS.116.001660. Circ Cardiovasc Genet. 2017. PMID: 28794111
Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.
van Velzen HG, Schinkel AFL, Baart SJ, Oldenburg RA, Frohn-Mulder IME, van Slegtenhorst MA, Michels M. van Velzen HG, et al. Among authors: van slegtenhorst ma. Circ Genom Precis Med. 2018 Apr;11(4):e001896. doi: 10.1161/CIRCGEN.117.001896. Circ Genom Precis Med. 2018. PMID: 29661763
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S. Deden AC, et al. Among authors: van slegtenhorst ma. Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2. Clin Chim Acta. 2018. PMID: 29870682 No abstract available.
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH. Verhagen JMA, et al. Among authors: van mil am, van slegtenhorst ma, van de laar imbh, van der smagt jj, van der zwaag pa, van den wijngaard a. Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9. Eur J Hum Genet. 2018. PMID: 29988065 Free PMC article.
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
Verhagen JMA, van den Born M, Kurul S, Asimaki A, van de Laar IMBH, Frohn-Mulder IME, Kammeraad JAE, Yap SC, Bartelings MM, van Slegtenhorst MA, von der Thüsen JH, Wessels MW. Verhagen JMA, et al. Among authors: van slegtenhorst ma, van de laar imbh, van den born m. Circ Genom Precis Med. 2018 Dec;11(12):e002397. doi: 10.1161/CIRCGEN.118.002397. Circ Genom Precis Med. 2018. PMID: 30562116 No abstract available.
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D. van Waning JI, et al. Among authors: van slegtenhorst ma. J Am Coll Cardiol. 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. J Am Coll Cardiol. 2019. PMID: 30947911 Free article.
125 results