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Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome.
Mauprivez C, Nguyen JF, de la Dure-Molla M, Naveau A. Mauprivez C, et al. Among authors: de la dure molla m. Int J Prosthodont. 2018 January/February;31(1):31–34. doi: 10.11607/ijp.5322. Epub 2017 Nov 22. Int J Prosthodont. 2018. PMID: 29166418
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.
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A. de la Dure-Molla M, et al. Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84. Orphanet J Rare Dis. 2014. PMID: 24927635 Free PMC article. Review.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: de la dure molla m. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 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
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study.
Friedlander L, Choquet R, Galliani E, de Chalendar M, Messiaen C, Ruel A, Vazquez MP, Berdal A, Alberti C, De La Dure Molla M. Friedlander L, et al. Among authors: de la dure molla m. Orphanet J Rare Dis. 2017 May 19;12(1):94. doi: 10.1186/s13023-017-0650-0. Orphanet J Rare Dis. 2017. PMID: 28526043 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.
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Fournier BP, Bruneau MH, Toupenay S, Kerner S, Berdal A, Cormier-Daire V, Hadj-Rabia S, Coudert AE, de La Dure-Molla M. Fournier BP, et al. Among authors: de la dure molla m. J Dent Res. 2018 Nov;97(12):1306-1316. doi: 10.1177/0022034518777460. Epub 2018 Jun 7. J Dent Res. 2018. PMID: 29879364
Translation and validation of the French version of the Child Perceptions Questionnaire for children aged from 8 to 10 years old (CPQ 8-10).
Boy-Lefèvre ML, Razanamihaja N, Azogui-Lévy S, Vigneron A, Jordan L, Berdal A, de la Dure-Molla M. Boy-Lefèvre ML, et al. Among authors: de la dure molla m. Health Qual Life Outcomes. 2018 May 3;16(1):86. doi: 10.1186/s12955-018-0907-x. Health Qual Life Outcomes. 2018. PMID: 29720198 Free PMC article.
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A. de La Dure-Molla M, et al. Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118030 Free PMC article. Review.
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