Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Muriel de la Dure Molla"'
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
Autor:
Yara Saade, Muriel de la Dure Molla, Benjamin P J Fournier, Stéphane Kerner, Pierre Colon, Maria Clotilde Carra, Philippe Bouchard
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0281390 (2023)
ObjectiveThis study aims to (1) assess the efficacy of a face-to-face emergency protocol in children and adults and (2) measure the efficacies of prediagnosis at the triage level and clinical diagnosis at the emergency department level during the COV
Externí odkaz:
https://doaj.org/article/b31b699cad9f4bbbaa6400933c6e262f
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
Autor:
Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-13 (2017)
Abstract Background In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to
Externí odkaz:
https://doaj.org/article/799b71fc01f84966a833731c3a1ef7ee
Autor:
Noeline Razanamihaja, Marie-Laure Boy-Lefèvre, Laurence Jordan, Lea Tapiro, Ariane Berdal, Muriel de la Dure-Molla, Sylvie Azogui-Levy
Publikováno v:
BMC Oral Health, Vol 18, Iss 1, Pp 1-11 (2018)
Abstract Background The Parental–Caregivers Perceptions Questionnaire (P-CPQ) is a measure of parental/caregivers’ perceptions of the impact of children’s oral health on quality of life. The aim of the study was evaluate the psychometric proper
Externí odkaz:
https://doaj.org/article/5c0cd7260f654a6a9f6313d29ecd5fca
Autor:
Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dyspla
Externí odkaz:
https://doaj.org/article/8bfb274a0fb7436e88718ddd08909e66
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
Autor:
Marie-Laure Boy-Lefèvre, Noéline Razanamihaja, Sylvie Azogui-Lévy, Andréa Vigneron, Laurence Jordan, Ariane Berdal, Muriel de la Dure-Molla
Publikováno v:
Health and Quality of Life Outcomes, Vol 16, Iss 1, Pp 1-8 (2018)
Abstract Background The Child Perceptions Questionnaire (CPQ) belongs to a set of questionnaires measuring Child Oral Health Quality of Life (COHQOL). The CPQ is used to collect the perceptions of children on the impact of oral diseases on their qual
Externí odkaz:
https://doaj.org/article/22100d6e6c4b4e72a8934daa79295e35
Autor:
Muriel de La Dure-Molla, Kemelly Karolliny Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Juliana Mazzeu, Valérie Cormier-Daire, Céline Gaucher, Ana Acevedo
Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb9380d3566b949d2fb928e0e676e3ca
https://doi.org/10.21203/rs.3.rs-2534719/v1
https://doi.org/10.21203/rs.3.rs-2534719/v1
Autor:
Guilhem Lignon, Fleur Beres, Mickael Quentric, Stephan Rouzière, Raphael Weil, Muriel De La Dure-Molla, Adrien Naveau, Renata Kozyraki, Arnaud Dessombz, Ariane Berdal
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of ename
Externí odkaz:
https://doaj.org/article/acf8b6b1584e4edc9845bf93a9d70eb4