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Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN. Palz M, et al. Among authors: von kodolitsch y. Am J Med Genet. 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10756346
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
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
A simple clinical model to estimate the probability of Marfan syndrome.
Sheikhzadeh S, Kusch ML, Rybczynski M, Kade C, Keyser B, Bernhardt AM, Hillebrand M, Mir TS, Fuisting B, Robinson PN, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y. Sheikhzadeh S, et al. Among authors: von kodolitsch y. QJM. 2012 Jun;105(6):527-35. doi: 10.1093/qjmed/hcs008. Epub 2012 Feb 1. QJM. 2012. PMID: 22301820 Clinical Trial.
FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
Kühne K, Keyser B, Groene EF, Sheikhzadeh S, Detter C, Lorenzen V, Hillebrand M, Bernhardt AM, Hoffmann B, Mir TS, Robinson PN, Berger J, Reichenspurner H, von Kodolitsch Y, Rybczynski M. Kühne K, et al. Among authors: von kodolitsch y. Int J Cardiol. 2013 Sep 30;168(2):953-9. doi: 10.1016/j.ijcard.2012.10.044. Epub 2012 Nov 22. Int J Cardiol. 2013. PMID: 23176764
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
202 results