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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. Among authors: acevedo ac. 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
Origins of Alterations to Rankl Null Mutant Mouse Dental Root Development.
Gama A, Vargas-Franco JW, Sánchez Mesa DC, Restrepo Bedoya E, Amiaud J, Babajko S, Berdal A, Acevedo AC, Heymann D, Lézot F, Castaneda B. Gama A, et al. Among authors: acevedo ac. Int J Mol Sci. 2020 Mar 23;21(6):2201. doi: 10.3390/ijms21062201. Int J Mol Sci. 2020. PMID: 32209985 Free PMC article.
Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.
Simancas Escorcia V, Guillou C, Abbad L, Derrien L, Rodrigues Rezende Costa C, Cannaya V, Benassarou M, Chatziantoniou C, Berdal A, Acevedo AC, Cases O, Cosette P, Kozyraki R. Simancas Escorcia V, et al. Among authors: acevedo ac. Front Endocrinol (Lausanne). 2021 Oct 29;12:752568. doi: 10.3389/fendo.2021.752568. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34777248 Free PMC article.
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. Among authors: acevedo ac. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Bardet C, Courson F, Wu Y, Khaddam M, Salmon B, Ribes S, Thumfart J, Yamaguti PM, Rochefort GY, Figueres ML, Breiderhoff T, Garcia-Castaño A, Vallée B, Le Denmat D, Baroukh B, Guilbert T, Schmitt A, Massé JM, Bazin D, Lorenz G, Morawietz M, Hou J, Carvalho-Lobato P, Manzanares MC, Fricain JC, Talmud D, Demontis R, Neves F, Zenaty D, Berdal A, Kiesow A, Petzold M, Menashi S, Linglart A, Acevedo AC, Vargas-Poussou R, Müller D, Houillier P, Chaussain C. Bardet C, et al. Among authors: acevedo ac. J Bone Miner Res. 2016 Mar;31(3):498-513. doi: 10.1002/jbmr.2726. Epub 2015 Oct 20. J Bone Miner Res. 2016. PMID: 26426912 Free article.
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.
de La Dure-Molla M, Fournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, Boy-Lefèvre ML, Kerner S, Toupenay S, Garrec P, Vi-Fane B, Felizardo R, Berteretche MV, Jordan L, Ferré F, Clauss F, Jung S, de Chalendar M, Troester S, Kawczynski M, Chaloyard J; International Group of Dental Nomenclature; Manière MC, Berdal A, Bloch-Zupan A. de La Dure-Molla M, et al. Among authors: acevedo ac. Am J Med Genet A. 2019 Oct;179(10):1913-1981. doi: 10.1002/ajmg.a.61316. Epub 2019 Aug 29. Am J Med Genet A. 2019. PMID: 31468724
78 results