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Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Spielmann M, et al. Among authors: dathe k. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022097 Free PMC article.
Deletion and point mutations of PTHLH cause brachydactyly type E.
Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Krüger G, Hiort O, Seemann P, Mundlos S. Klopocki E, et al. Among authors: dathe k. Am J Hum Genet. 2010 Mar 12;86(3):434-9. doi: 10.1016/j.ajhg.2010.01.023. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170896 Free PMC article.
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. Klopocki E, et al. Among authors: dathe k. Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17. Am J Hum Genet. 2011. PMID: 21167467 Free PMC article.
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, Plöger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P. Degenkolbe E, et al. Among authors: dathe k. PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3. PLoS Genet. 2013. PMID: 24098149 Free PMC article.
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, Gassner I, Rusu C, Janecke AR, Dathe K, Mundlos S. Seemann P, et al. Among authors: dathe k. PLoS Genet. 2009 Nov;5(11):e1000747. doi: 10.1371/journal.pgen.1000747. Epub 2009 Nov 26. PLoS Genet. 2009. PMID: 19956691 Free PMC article.
43 results