Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534

Oral lesions of viral, bacterial, and fungal diseases in children: A decision tree

Autor: Charlotte Guillouet, Margot C. Riou, Lucas T. Duong, Muriel de La Dure-Molla, Benjamin P. J. Fournier

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Oral mucosal lesions are common in the pediatric population and, apart from traumatic and tumoral etiologies, they can be symptoms of viral, bacterial, fungal or parasitic diseases. Yet, pediatricians and pediatric dentists find it challenging to rea

Externí odkaz: https://doaj.org/article/4ae28e80b86043228a63f3bb66c3943e

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study

Autor: Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti, Muriel De La Dure Molla

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

Abstract Background Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association between Oral health-rela

Externí odkaz: https://doaj.org/article/da9f61b558854fd58c1c3c84873b1ad7

Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome

Autor: Victor Simancas Escorcia, Abdoulaziz Diarra, Adrien Naveau, Arnaud Dessombz, Rufino Felizardo, Vidjeacoumary Cannaya, Christos Chatziantoniou, Mickaël Quentric, Miikka Vikkula, Olivier Cases, Ariane Berdal, Muriel De La Dure-Molla, Renata Kozyraki

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in FAM20A (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed

Externí odkaz: https://doaj.org/article/406c84b6f3bc4895964e613dd15074e0

Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports

Autor: Steve Toupenay, Benjamin Philippe Fournier, Marie-Cécile Manière, Chantal Ifi-Naulin, Ariane Berdal, Muriel de La Dure– Molla

Publikováno v: BMC Oral Health, Vol 18, Iss 1, Pp 1-8 (2018)

Abstract Background Hereditary enamel defect diseases are regrouped under the name “Amelogenesis Imperfecta” (AIH). Both dentitions are affected. Clinical expression is heterogeneous and varies between patients. Mutations responsible for this mul

Externí odkaz: https://doaj.org/article/f88ece5436374416ae289587779c0737