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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. Among authors: emmerich d. 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. Among authors: emmerich d. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
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.
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. Egerer J, et al. Among authors: emmerich d. J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22. J Invest Dermatol. 2015. PMID: 26000619 Free article.
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. Among authors: emmerich d. 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.
Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, Théallier-Janko A, Dreier J, Lohan K, Emmerich D, Cervós-Navarro J, Windl O, Kretzschmar HA, Nürnberg P, Witkowski R. Harder A, et al. Among authors: emmerich d. Am J Med Genet. 1999 Dec 3;87(4):311-6. doi: 10.1002/(sici)1096-8628(19991203)87:4<311::aid-ajmg6>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10588836
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M. Kobus K, et al. Among authors: emmerich d. PLoS One. 2015 Mar 16;10(3):e0119030. doi: 10.1371/journal.pone.0119030. eCollection 2015. PLoS One. 2015. PMID: 25775093 Free PMC article.
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.
Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M. Kühnisch J, et al. Among authors: emmerich d. PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014. PLoS One. 2014. PMID: 24465906 Free PMC article.
48 results