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Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Yuan B, et al. Among authors: von kodolitsch y. Hum Mutat. 1999;14(5):440-6. doi: 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P. Hum Mutat. 1999. PMID: 10533071
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, von Kodolitsch Y, Rosenberger G. Leutermann R, et al. Among authors: von kodolitsch y. Eur J Hum Genet. 2014 Jul;22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193348 Free PMC article. Clinical Trial.
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice.
Guo G, Muñoz-García B, Ott CE, Grünhagen J, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, Robinson PN. Guo G, et al. Among authors: von kodolitsch y. Hum Mol Genet. 2013 Feb 1;22(3):433-43. doi: 10.1093/hmg/dds439. Epub 2012 Oct 24. Hum Mol Genet. 2013. PMID: 23100322
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.
Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S, Bonin M, Arslan-Kirchner M, von Kodolitsch Y, Binner P, Scheffold T, Stuhrmann M, Waldmüller S. Kathiravel U, et al. Among authors: von kodolitsch y. Mol Cell Probes. 2013 Apr;27(2):103-8. doi: 10.1016/j.mcp.2012.10.002. Epub 2012 Nov 6. Mol Cell Probes. 2013. PMID: 23142374
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M. Rommel K, et al. Among authors: von kodolitsch y. Hum Mutat. 2005 Dec;26(6):529-39. doi: 10.1002/humu.20239. Hum Mutat. 2005. PMID: 16220557
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
Groth KA, Von Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen NH, Gravholt CH. Groth KA, et al. Among authors: von kodolitsch y. Genet Med. 2017 Jul;19(7):772-777. doi: 10.1038/gim.2016.181. Epub 2016 Dec 1. Genet Med. 2017. PMID: 27906200
Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
von Kodolitsch Y, Kutsche K. von Kodolitsch Y, et al. J Hum Genet. 2015 Sep;60(9):465-6. doi: 10.1038/jhg.2015.95. Epub 2015 Jul 30. J Hum Genet. 2015. PMID: 26223180 No abstract available.
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.
Aydin A, Adsay BA, Sheikhzadeh S, Keyser B, Rybczynski M, Sondermann C, Detter C, Steven D, Robinson PN, Berger J, Schmidtke J, Blankenberg S, Willems S, von Kodolitsch Y, Hoffmann BA. Aydin A, et al. Among authors: von kodolitsch y. PLoS One. 2013 Dec 13;8(12):e81281. doi: 10.1371/journal.pone.0081281. eCollection 2013. PLoS One. 2013. PMID: 24349050 Free PMC article.
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
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
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