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Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M. Emmerich D, et al. Eur J Hum Genet. 2015 Jun;23(6):870-3. doi: 10.1038/ejhg.2014.210. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293717 Free PMC article.
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J. Ibrahim DM, et al. Genome Res. 2013 Dec;23(12):2091-102. doi: 10.1101/gr.157610.113. Epub 2013 Aug 30. Genome Res. 2013. PMID: 23995701 Free PMC article.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P. Pfirrmann T, et al. Hum Mol Genet. 2015 Jun 1;24(11):3119-32. doi: 10.1093/hmg/ddv063. Epub 2015 Feb 23. Hum Mol Genet. 2015. PMID: 25712132
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. Eur J Hum Genet. 2015. PMID: 25880334 Free PMC article. No abstract available.
110 results