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Meienberg, Janine; Rohrbach, Marianne; Neuenschwander, Stefan; Spanaus, Katharina; Giunta, Cecilia; Alonso, Sira; Arnold, Eliane; Henggeler, Caroline; Regenass, Stephan; Patrignani, Andrea; Azzarello-Burri, Silvia; Steiner, Bernhard; Nygren, Anders O H; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European journal of human genetics, 18(12), pp. 1315-21. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2010.105
Magyar, István; Colman, Dvora; Arnold, Eliane; Baumgartner, Daniela; Bottani, Armand; Fokstuen, Siv; Addor, Marie-Claude; Berger, Wolfgang; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human mutation, 30(9), pp. 1355-64. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21058
Mátyás, Gábor; Alonso, Sira; Patrignani, Andrea; Marti, Myriam; Arnold, Eliane; Magyar, István; Henggeler, Caroline; Carrel, Thierry; Steinmann, Beat; Berger, Wolfgang (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human genetics, 122(1), pp. 23-32. Berlin: Springer 10.1007/s00439-007-0371-x
Mátyás, Gábor; Arnold, Eliane; Carrel, Thierry; Baumgartner, Daniela; Boileau, Catherine; Berger, Wolfgang; Steinmann, Beat (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human mutation, 27(8), pp. 760-9. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20353
