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Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: brookes sj. Am J Hum Genet. 2013 Feb 7;92(2):307-12. doi: 10.1016/j.ajhg.2013.01.003. Epub 2013 Jan 31. Am J Hum Genet. 2013. PMID: 23375655 Free PMC article.
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.
Smith CEL, Poulter JA, Brookes SJ, Murillo G, Silva S, Brown CJ, Patel A, Hussain H, Kirkham J, Inglehearn CF, Mighell AJ. Smith CEL, et al. Among authors: brookes sj. J Dent Res. 2019 Jun;98(6):698-704. doi: 10.1177/0022034519835205. Epub 2019 Mar 24. J Dent Res. 2019. PMID: 30905256 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: brookes sj. 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.
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ. Poulter JA, et al. Among authors: brookes sj. Hum Mol Genet. 2014 Oct 15;23(20):5317-24. doi: 10.1093/hmg/ddu247. Epub 2014 May 23. Hum Mol Genet. 2014. PMID: 24858907 Free PMC article.
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Smith CE, et al. Among authors: brookes sj. Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302843 Free PMC article.
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ. Smith CE, et al. Among authors: brookes sj. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12. Hum Mol Genet. 2016. PMID: 27412008 Free PMC article.
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Nikolopoulos G, Smith CEL, Brookes SJ, El-Asrag ME, Brown CJ, Patel A, Murillo G, O'Connell MJ, Inglehearn CF, Mighell AJ. Nikolopoulos G, et al. Among authors: brookes sj. Clin Genet. 2020 May;97(5):688-695. doi: 10.1111/cge.13721. Epub 2020 Feb 21. Clin Genet. 2020. PMID: 32052416 Free PMC article.
256 results