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Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ. O'Sullivan J, et al. Among authors: dixon mj. Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549343 Free PMC article.
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A, Richardson RJ, Butterworth J, Barron MJ, Dixon MJ. Fenwick A, et al. Among authors: dixon mj. J Dent Res. 2008 Nov;87(11):1021-6. doi: 10.1177/154405910808701108. J Dent Res. 2008. PMID: 18946008 Free PMC article.
Is the 32-kDa fragment the functional enamelin unit in all species?
Brookes SJ, Kingswell NJ, Barron MJ, Dixon MJ, Kirkham J. Brookes SJ, et al. Among authors: dixon mj. Eur J Oral Sci. 2011 Dec;119 Suppl 1(S1):345-50. doi: 10.1111/j.1600-0722.2011.00869.x. Eur J Oral Sci. 2011. PMID: 22243266 Free PMC article.
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raïf el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: dixon mj. Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901946 Free PMC article.
272 results