Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

Autor: P.M. Yamaguti, M. de La Dure-Molla, S. Monnot, Y.J. Cardozo-Amaya, G. Baujat, C. Michot, B.P.J. Fournier, M.C. Riou, E.C.C. Caldas Rosa, Y. Soares de Lima, P.A.C. dos Santos, G. Alcaraz, E.N.S. Guerra, L.C. Castro, S.F. de Oliveira, R. Pogue, A. Berdal, L.M. de Paula, J.F. Mazzeu, V. Cormier-Daire, A.C. Acevedo

Publikováno v: Journal of Dental Research. :002203452311545

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d70816563a5d5041683a9a664af1929
https://doi.org/10.1177/00220345231154569

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

Autor: Christine Bodemer, M. Valeria Ursini, Andrea Diociaiuti, Charles Taieb, Smail Hadj-Rabia, P. De Liso, M. Federici, M. de la Dure‐Molla, Marie Cécile Manière, Matthieu P. Robert, Sylvie Fraitag, M. El Hachem, C. Demily, A. Galeotti, Francesca Fusco, Isabelle Desguerre, Julie Steffann

Publikováno v: Journal of the European Academy of Dermatology and Venereology (Online) 34 (2020): 1415–1424. doi:10.1111/jdv.16403
info:cnr-pdr/source/autori:Bodemer C.; Diociaiuti A.; Hadj-Rabia S.; Robert M.P.; Desguerre I.; Maniere M.-C.; de la Dure-Molla M.; De Liso P.; Federici M.; Galeotti A.; Fusco F.; Fraitag S.; Demily C.; Taieb C.; Valeria Ursini M.; El Hachem M.; Steffann J./titolo:Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti/doi:10.1111%2Fjdv.16403/rivista:Journal of the European Academy of Dermatology and Venereology (Online)/anno:2020/pagina_da:1415/pagina_a:1424/intervallo_pagine:1415–1424/volume:34

Background Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c118b5d0532b57978aeb5466ba032f
https://doi.org/10.1111/jdv.16403

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DS_10.1177_0022034518777460 – Supplemental material for Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes

Autor: B.P. Fournier, M.H. Bruneau, S. Toupenay, S. Kerner, A. Berdal, V. Cormier-Daire, S. Hadj-Rabia, A.E. Coudert, M. De La Dure-Molla

Supplemental material, DS_10.1177_0022034518777460 for Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes by B.P. Fournier, M.H. Bruneau, S. Toupenay, S. Kerner, A. Berdal, V. Cormier-Daire, S. Hadj-Rabia, A.E. Coudert an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f85dbe440434c082d2e821f4ccb560

Gestion des agénésies des 2esprémolaires mandibulaires

Autor: Marie Medio, A. Popelut, M. De La Dure Molla

Publikováno v: Revue d'Orthopédie Dento-Faciale. 48:377-388

En Europe, l’agenesie dentaire affecte 5,45 % de la population. En excluant les 3es molaires, les 2es premolaires mandibulaires sont le plus souvent affectees. Pour chaque situation clinique, l’orthodontiste doit decider de la meilleure option th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e67948d68b75d21a2a85bddf38899c19
https://doi.org/10.1051/odf/2014037