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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Among authors: van slegtenhorst ma, van de laar imbh, van osch gevers l, van bever y, van langen im. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free 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: van der smagt j, van langen im, van gelder ic. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands. van Tintelen JP, et al. Among authors: van der kooi aj, van den berg mp, van langen im, van gelder ic, van veldhuisen dj. Am Heart J. 2007 Dec;154(6):1130-9. doi: 10.1016/j.ahj.2007.07.038. Epub 2007 Sep 14. Am Heart J. 2007. PMID: 18035086
Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome.
Hendriks KS, Hendriks MM, Birnie E, Grosfeld FJ, Wilde AA, van den Bout J, Smets EM, van Tintelen JP, ten Kroode HF, van Langen IM. Hendriks KS, et al. Among authors: van den bout j, van langen im, van tintelen jp. Heart Rhythm. 2008 May;5(5):719-24. doi: 10.1016/j.hrthm.2008.01.032. Epub 2008 Jan 30. Heart Rhythm. 2008. PMID: 18452877
131 results