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Page 1
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Enamel defects reflect perinatal exposure to bisphenol A.
Jedeon K, De la Dure-Molla M, Brookes SJ, Loiodice S, Marciano C, Kirkham J, Canivenc-Lavier MC, Boudalia S, Bergès R, Harada H, Berdal A, Babajko S. Jedeon K, et al. Am J Pathol. 2013 Jul;183(1):108-18. doi: 10.1016/j.ajpath.2013.04.004. Epub 2013 Jun 10. Am J Pathol. 2013. PMID: 23764278 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.
Ameloblastin as a putative marker of specific bone compartments.
Jacques J, Hotton D, Asselin A, De la Dure-Molla M, Coudert AE, Isaac J, Berdal A. Jacques J, et al. Connect Tissue Res. 2014 Aug;55 Suppl 1:117-20. doi: 10.3109/03008207.2014.923849. Connect Tissue Res. 2014. PMID: 25158194
MSX2 in ameloblast cell fate and activity.
Babajko S, de La Dure-Molla M, Jedeon K, Berdal A. Babajko S, et al. Front Physiol. 2015 Jan 5;5:510. doi: 10.3389/fphys.2014.00510. eCollection 2014. Front Physiol. 2015. PMID: 25601840 Free PMC article. Review.
[Enamel: a unique self-assembling in mineral world].
Lignon G, de la Dure-Molla M, Dessombz A, Berdal A, Babajko S. Lignon G, et al. Med Sci (Paris). 2015 May;31(5):515-21. doi: 10.1051/medsci/20153105013. Epub 2015 Jun 9. Med Sci (Paris). 2015. PMID: 26059302 Free article. Review. French.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. Prasad MK, et al. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26. J Med Genet. 2016. PMID: 26502894 Free PMC article.
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houillier P, Chaussain C, Babajko S, Berdal A, Acevedo AC. Yamaguti PM, et al. J Med Genet. 2017 Jan;54(1):26-37. doi: 10.1136/jmedgenet-2016-103956. Epub 2016 Aug 16. J Med Genet. 2017. PMID: 27530400
34 results