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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN. Roncarati R, et al. Among authors: von kodolitsch y. Eur J Hum Genet. 2013 Oct;21(10):1105-11. doi: 10.1038/ejhg.2013.16. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463027 Free PMC article.
Diagnosis and management of Marfan syndrome.
von Kodolitsch Y, Rybczynski M, Detter C, Robinson PN. von Kodolitsch Y, et al. Future Cardiol. 2008 Jan;4(1):85-96. doi: 10.2217/14796678.4.1.85. Future Cardiol. 2008. PMID: 19804274
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan-Kirchner M, Rybczynski M, Bernhardt AM, Habermann CR, Hillebrand M, Mir T, Robinson PN, Berger J, Detter C, Blankenberg S, Schmidtke J, von Kodolitsch Y. Sheikhzadeh S, et al. Among authors: von kodolitsch y. Clin Genet. 2012 Sep;82(3):240-7. doi: 10.1111/j.1399-0004.2011.01771.x. Epub 2011 Oct 5. Clin Genet. 2012. PMID: 21883168
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
Sheikhzadeh S, Rybczynski M, Habermann CR, Bernhardt AM, Arslan-Kirchner M, Keyser B, Kaemmerer H, Mir TS, Staebler A, Oezdal N, Robinson PN, Berger J, Meinertz T, von Kodolitsch Y. Sheikhzadeh S, et al. Among authors: von kodolitsch y. Clin Genet. 2011 Jun;79(6):568-74. doi: 10.1111/j.1399-0004.2010.01494.x. Clin Genet. 2011. PMID: 20662850
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.
Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann CR, Brockstaedt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson PN, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y. Sheikhzadeh S, et al. Among authors: von kodolitsch y. Clin Genet. 2014 Sep;86(3):238-45. doi: 10.1111/cge.12264. Epub 2013 Sep 23. Clin Genet. 2014. PMID: 23991918
207 results