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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM. Schmidts M, et al. Among authors: duncan el. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183451 Free PMC article.
Genetic studies of osteoporosis.
Brown MA, Duncan EL. Brown MA, et al. Among authors: duncan el. Expert Rev Mol Med. 1999 Oct 19;1999:1-18. doi: 10.1017/S1462399499000964. Expert Rev Mol Med. 1999. PMID: 14585121
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA. Zankl A, et al. Among authors: duncan el. Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387013 Free PMC article.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL. Sparrow DB, et al. Among authors: duncan el. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335591
Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.
Zheng HF, Duncan EL, Yerges-Armstrong LM, Eriksson J, Bergström U, Leo PJ, Leslie WD, Goltzman D, Blangero J, Hanley DA, Carless MA, Streeten EA, Lorentzon M, Brown MA, Spector TD, Pettersson-Kymmer U, Ohlsson C, Mitchell BD, Richards JB. Zheng HF, et al. Among authors: duncan el. J Med Genet. 2013 Jul;50(7):473-8. doi: 10.1136/jmedgenet-2012-101287. Epub 2013 Apr 9. J Med Genet. 2013. PMID: 23572186 Free PMC article.
178 results