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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. 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.
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: klopocki e. 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.
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E. Lohan S, et al. Among authors: klopocki e. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17. Clin Genet. 2014. PMID: 24456159
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.
114 results