Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Arnaud Picard"'
Autor:
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for predicting KS (Kabuki Syndrome) on 2D faci
Externí odkaz:
https://doaj.org/article/9c5ec937868541c8bad4ceb27187e34f
Autor:
Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive
Externí odkaz:
https://doaj.org/article/f9fb840ffea7428da972b71c8a8dc77c
Autor:
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external
Externí odkaz:
https://doaj.org/article/e72a58df2f8b494196509d3410ed6345
Autor:
Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer, Nancy Vegas, Jeanne Amiel, Gérard Couly, Arnaud Picard, Laurence Vaivre-Douret, Véronique Abadie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stick
Externí odkaz:
https://doaj.org/article/c1621709acc0475a988a4f5d87c333a3
Autor:
Caroline Ea, Quentin Hennocq, Arnaud Picard, Michel Polak, Corinne Collet, Laurence Legeai-Mallet, Éric Arnaud, Giovanna Paternoster, Roman Hossein Khonsari
Publikováno v:
Bone Reports, Vol 16, Iss , Pp 101524- (2022)
Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor
Externí odkaz:
https://doaj.org/article/b0b16ff7e7cf4580a98f2a4720174a71
Autor:
Anne Morice, Aline Joly, Manon Ricquebourg, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoann Vial, Hélène Cavé, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Amelie E. Coudert, Natacha Kadlub
Publikováno v:
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear g
Externí odkaz:
https://doaj.org/article/d87f5d340f664392b56fa36f18aaa139
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:
Anne Morice, Manon Ricquebourg, Aline Joly, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoan Vial, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Natacha Kadlub, Amélie Coudert
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100610- (2020)
Externí odkaz:
https://doaj.org/article/a71cabf1518849cda39b6bdb994c7efc
Autor:
Natacha Kadlub, Quentin Sessiecq, Marion Mandavit, Aurore Coulomb L’Hermine, Cecile Badoual, Louise Galmiche, Ariane Berdal, Vianney Descroix, Arnaud Picard, Amélie E. Coudert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Abstract Background Cherubism is a rare autosomal dominant disorder of the jaws caused by mutation of the SH3BP2 gene. The bone is replaced by a fibrous granuloma containing multinucleated giant cells. Cells of the cherubism granuloma have never been
Externí odkaz:
https://doaj.org/article/936658526b28474982965083221e5b5e
Autor:
Anne Morice, Véronique Soupre, Delphine Mitanchez, Francis Renault, Brigitte Fauroux, Sandrine Marlin, Nicolas Leboulanger, Natacha Kadlub, Marie-Paule Vazquez, Arnaud Picard, Véronique Abadie
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Pierre Robin sequence (PRS) may lead to life-threatening respiratory and feeding disorders. With the aim to analyse the association of the severities of retrognathia and glossoptosis with those of respiratory and feeding disorders, we retrospectively
Externí odkaz:
https://doaj.org/article/c271b428d06e4e5e959572c533f132de