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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. 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
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C. Gruenauer-Kloevekorn C, et al. Br J Ophthalmol. 2009 Jul;93(7):932-7. doi: 10.1136/bjo.2008.142927. Epub 2008 Nov 10. Br J Ophthalmol. 2009. PMID: 19001012
[Isolated corneal intraepithelial dysplasia].
Eberwein P, Maier P, Auw-Haedrich C, Reinhard T. Eberwein P, et al. Ophthalmologe. 2009 Oct;106(10):918-20. doi: 10.1007/s00347-008-1892-y. Ophthalmologe. 2009. PMID: 19306006 German.
79 results