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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET, Posafalvi A, Syrris P, van der Velde KJ, Bolling MC, Protonotarios A, Boven LG, Amat-Codina N, Groeneweg JA, Wilde AA, Sobreira N, Calkins H, Hauer RNW, Jonkman MF, McKenna WJ, Elliott PM, Sinke RJ, van den Berg MP, Chelko SP, James CA, van Tintelen JP, Judge DP, Jongbloed JDH. Hoorntje ET, et al. Among authors: jonkman mf. PLoS One. 2018 Aug 30;13(8):e0203078. doi: 10.1371/journal.pone.0203078. eCollection 2018. PLoS One. 2018. PMID: 30161220 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: jonkman mf. 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.
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: jonkman mf. 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.
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC. Yenamandra VK, et al. Among authors: jonkman mf. Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. Br J Dermatol. 2018. PMID: 29779254 No abstract available.
Focal acantholysis in junctional epidermolysis bullosa.
Huggins RH, Bolling MC, Diercks GF, Jonkman MF. Huggins RH, et al. Among authors: jonkman mf. Eur J Dermatol. 2008 Nov-Dec;18(6):729-30. doi: 10.1684/ejd.2008.0538. Eur J Dermatol. 2008. PMID: 19049949 No abstract available.
A PLEC Isoform Identified in Skin, Muscle, and Heart.
Gostyńska KB, Lemmink H, Bremer J, Pas HH, Nijenhuis M, van den Akker PC, Sinke RJ, Jonkman MF, Pasmooij AMG. Gostyńska KB, et al. Among authors: jonkman mf. J Invest Dermatol. 2017 Feb;137(2):518-522. doi: 10.1016/j.jid.2016.09.032. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769846 Free article. No abstract available.
322 results