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X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: kelberman d. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. Prasov L, et al. Among authors: kelberman d. Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645276 Free PMC article.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. Webb EA, et al. Among authors: kelberman d. Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10. Brain. 2013. PMID: 24022475 Free PMC article.
45 results