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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: brown ma. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Genetic studies of osteoporosis.
Brown MA, Duncan EL. Brown MA, et al. Expert Rev Mol Med. 1999 Oct 19;1999:1-18. doi: 10.1017/S1462399499000964. Expert Rev Mol Med. 1999. PMID: 14585121
Genetic studies in osteoporosis--the end of the beginning.
Duncan EL, Brown MA. Duncan EL, et al. Among authors: brown ma. Arthritis Res Ther. 2008;10(5):214. doi: 10.1186/ar2479. Epub 2008 Sep 12. Arthritis Res Ther. 2008. PMID: 18828878 Free PMC article. Review.
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: brown ma. 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: brown ma. 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: brown ma. 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.
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium; Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. McInerney-Leo AM, et al. Among authors: brown ma. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910462 Free PMC article.
1,559 results