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Page 1
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.
Nicastro M, Vermeer AMC, Postema PG, Tadros R, Bowling FZ, Aegisdottir HM, Tragante V, Mach L, Postma AV, Lodder EM, van Duijvenboden K, Zwart R, Beekman L, Wu L, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santomel JL, de Una D, Monserrat L, Miranda AMA, Kanemaru K, Cranley J, van Zeggeren IE, Aronica EMA, Ripolone M, Zanotti S, Sveinbjornsson G, Ivarsdottir EV, Hólm H, Guðbjartsson DF, Skúladóttir ÁT, Stefánsson K, Nadauld L, Knowlton KU, Ostrowski SR, Sørensen E, Vesterager Pedersen OB, Ghouse J, Rand S, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tøring PM, Brusgaard K, Juul TM, Saaby L, Winkel BG, Mogensen J, Fortunato F, Comi GP, Ronchi D, van Tintelen JP, Noseda M, Airola MV, Christiaans I, Wilde AAM, Wilders R, Clur SA, Verkerk AO, Bezzina CR, Lahrouchi N. Nicastro M, et al. Among authors: van der zwaag pa. medRxiv [Preprint]. 2024 Jul 5:2024.07.04.24309755. doi: 10.1101/2024.07.04.24309755. medRxiv. 2024. PMID: 39006410 Free PMC article. Preprint.
Counsel the genotype, treat the phenotype.
van der Zwaag PA, van Tintelen JP. van der Zwaag PA, et al. Among authors: van tintelen jp. Eur J Heart Fail. 2011 Nov;13(11):1159-60. doi: 10.1093/eurjhf/hfr131. Epub 2011 Sep 29. Eur J Heart Fail. 2011. PMID: 21965524 Free article. No abstract available.
Genetic diagnosis through whole-exome sequencing.
van der Zwaag PA, Jongbloed JD, van Tintelen JP. van der Zwaag PA, et al. Among authors: van tintelen jp. N Engl J Med. 2014 Mar 13;370(11):1067. doi: 10.1056/NEJMc1315908. N Engl J Med. 2014. PMID: 24620873 No abstract available.
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases.
Nannenberg EA, van Rijsingen IAW, van der Zwaag PA, van den Berg MP, van Tintelen JP, Tanck MWT, Ackerman MJ, Wilde AAM, Christiaans I. Nannenberg EA, et al. Among authors: van den berg mp, van rijsingen iaw, van der zwaag pa, van tintelen jp. Circ Genom Precis Med. 2018 Oct;11(10):e001797. doi: 10.1161/CIRCGEN.117.001797. Circ Genom Precis Med. 2018. PMID: 30354299
Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al.
van der Zwaag PA, Jongbloed JD, van den Berg MP, Jonkman MF, van Tintelen JP. van der Zwaag PA, et al. Among authors: van den berg mp, van tintelen jp. Eur J Med Genet. 2009 Jul-Aug;52(4):277. doi: 10.1016/j.ejmg.2009.01.003. Epub 2009 Feb 3. Eur J Med Genet. 2009. PMID: 19450441 No abstract available.
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA. van der Smagt JJ, et al. Among authors: van langen im, van der zwaag pa, van tintelen jp. Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. Cardiology. 2012. PMID: 23147395
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA. van Lint FHM, et al. Among authors: van der smagt jj, van der zwaag pa, van den wijngaard a, van tintelen jp. Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6. Circ Genom Precis Med. 2019. PMID: 31386562 Free article.
Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.
van Rijsingen IA, van der Zwaag PA, Groeneweg JA, Nannenberg EA, Jongbloed JD, Zwinderman AH, Pinto YM, Dit Deprez RH, Post JG, Tan HL, de Boer RA, Hauer RN, Christiaans I, van den Berg MP, van Tintelen JP, Wilde AA. van Rijsingen IA, et al. Among authors: van den berg mp, van der zwaag pa, van tintelen jp. Circ Cardiovasc Genet. 2014 Aug;7(4):455-65. doi: 10.1161/CIRCGENETICS.113.000374. Epub 2014 Jun 8. Circ Cardiovasc Genet. 2014. PMID: 24909667
Sex-specific aspects of phospholamban cardiomyopathy: The importance and prognostic value of low-voltage electrocardiograms.
de Brouwer R, Meems LMG, Verstraelen TE, Mahmoud B, Proost V, Wilde AAM, Bosman LP, van Drie E, van der Zwaag PA, van Tintelen JP, Houweling AC, van den Berg MP, de Boer RA. de Brouwer R, et al. Among authors: van drie e, van den berg mp, van der zwaag pa, van tintelen jp. Heart Rhythm. 2022 Mar;19(3):427-434. doi: 10.1016/j.hrthm.2021.11.009. Epub 2021 Nov 9. Heart Rhythm. 2022. PMID: 34767988 Free article.
62 results