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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Huckert M, et al. Among authors: mathieu e. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10. Hum Mol Genet. 2015. PMID: 25669657 Free PMC article.
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A. Gasse B, et al. Among authors: mathieu e. J Dent Res. 2013 Jul;92(7):598-603. doi: 10.1177/0022034513488393. Epub 2013 Apr 26. J Dent Res. 2013. PMID: 23625376
Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects.
Morkmued S, Laugel-Haushalter V, Mathieu E, Schuhbaur B, Hemmerlé J, Dollé P, Bloch-Zupan A, Niederreither K. Morkmued S, et al. Among authors: mathieu e. Front Physiol. 2017 Jan 6;7:673. doi: 10.3389/fphys.2016.00673. eCollection 2016. Front Physiol. 2017. PMID: 28111553 Free PMC article.
281 results