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Insufficient evidence for a role of SERPINF1 in otosclerosis.
Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G. Valgaeren H, et al. Among authors: beyens m. Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9. Mol Genet Genomics. 2019. PMID: 30968248
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Schrauwen I, et al. Among authors: beyens m. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925 Free article.
Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
Vandamme T, Beyens M, Boons G, Schepers A, Kamp K, Biermann K, Pauwels P, De Herder WW, Hofland LJ, Peeters M, Van Camp G, Op de Beeck K. Vandamme T, et al. Among authors: beyens m. Endocr Relat Cancer. 2019 Jan 1;26(1):1-12. doi: 10.1530/ERC-18-0120. Endocr Relat Cancer. 2019. PMID: 30021865
85 results