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Page 1
Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.
Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP. Aalberts JJ, et al. Among authors: van den berg mp, van tintelen jp. Am J Med Genet A. 2014 Jan;164A(1):113-9. doi: 10.1002/ajmg.a.36211. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243761
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
Almomani R, Herkert JC, Posafalvi A, Post JG, Boven LG, van der Zwaag PA, Willems PHGM, van Veen-Hof IH, Verhagen JMA, Wessels MW, Nikkels PGJ, Wintjes LT, van den Berg MP, Sinke RJ, Rodenburg RJ, Niezen-Koning KE, van Tintelen JP, Jongbloed JDH. Almomani R, et al. Among authors: van veen hof ih, van den berg mp, van der zwaag pa, van tintelen jp. J Med Genet. 2020 Jan;57(1):23-30. doi: 10.1136/jmedgenet-2019-106330. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494578
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP. Bergman JE, et al. Among authors: van essen aj, van ravenswaaij cm, van den wijngaard a, van tintelen jp. Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. doi: 10.1016/j.ejmg.2007.06.003. Epub 2007 Jul 15. Eur J Med Genet. 2007. PMID: 17720647
239 results