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Page 1
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. 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.
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Smith CEL, et al. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Front Physiol. 2017. PMID: 28694781 Free PMC article. Review.
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. 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.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Ratbi I, et al. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.
Tracking endogenous amelogenin and ameloblastin in vivo.
Jacques J, Hotton D, De la Dure-Molla M, Petit S, Asselin A, Kulkarni AB, Gibson CW, Brookes SJ, Berdal A, Isaac J. Jacques J, et al. PLoS One. 2014 Jun 16;9(6):e99626. doi: 10.1371/journal.pone.0099626. eCollection 2014. PLoS One. 2014. PMID: 24933156 Free PMC article.
12 results