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

The impact of having a baby with cleft lip and palate on parents and on parent-baby relationship: the first French prospective multicentre study

Autor: Bruno Grollemund, Caroline Dissaux, Pascale Gavelle, Carla Pérez Martínez, Jimmy Mullaert, Toni Alfaiate, Antoine Guedeney, CLIP team (Cleft Lip & palate Infant Parent)

Publikováno v: BMC Pediatrics, Vol 20, Iss 1, Pp 1-11 (2020)

Abstract Background The objective of this prospective, multidisciplinary and multicenter study was to explore the effect of a cleft lip, associated or not with a cleft palate, on parents, on parent-infant relationship, and on the baby’s relational

Externí odkaz: https://doaj.org/article/fb246bd0a7f7492ca97644b18e1ee112

The First Hybrid International Educational Comprehensive Cleft Care Workshop

Autor: Rami S. Kantar, Elçin Esenlik, Omar S. Al Abyad, Antonio Melhem, Robert A. Younan, Mario Haddad, Kristen Keith, Serena Kassam, Beyhan Annan, Charanya Vijayakumar, Arnaud Picard, Bonnie L. Padwa, Brian Sommerlad, Cassio Eduardo Raposo-Amaral, Christopher R. Forrest, David A. Gillett, Derek M. Steinbacher, Christopher M. Runyan, Daniela Y. S. Tanikawa, David K. Chong, David M. Fisher, Hans Mark, Halil Ibrahim Canter, Joseph E. Losee, Krishna G. Patel, Larry D. Hartzell, Adam B. Johnson, Marcus Vinícius Martins Collares, Nivaldo Alonso, Philip Kuo-Ting Chen, Raymond Tse, Robert J. Mann, Jose Rolando Prada-Madrid, Shinji Kobayashi, Syed Altaf Hussain, Ann Kummer, Debbie A. Sell, Valerie J. Pereira, Kelly Mabry, Courtney K. Gonsoulin, Martin Persson, Gareth Davies, Navil F. Sethna, Jennifer C. Munoz-Pareja, Anne Marie Kuijpers-Jagtman, Barry H. Grayson, Bruno Grollemund, Daniela G. Garib, Maria Costanza Meazzini, Om P. Kharbanda, Pedro E. Santiago, Prasad Nalabothu, Puneet Batra, Erin Stieber, Dushyant Prasad, Hugh Brewster, Ruben Ayala, Elif Erbay, M. Okan Akcam, J. Peter W. Don Griot, Raj M. Vyas, Roberto L Flores, Corstiaan C. Breugem, Usama S. Hamdan

Objective Describe the first hybrid global simulation-based comprehensive cleft care workshop, evaluate impact on participants, and compare experiences based on in-person versus virtual attendance. Design Cross-sectional survey-based evaluation. Sett

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f9fa6ac84cefeb60de0067fec2211a

Effets de la disjonction maxillaire rapide sur la rétention des canines chez les patients présentant un déficit squelettique transversal maxillaire

Autor: Julien Wolff, Bruno Grollemund, Renaud Rinkenbach, Delphine Wagner

Publikováno v: L'Orthodontie Française. 88:243-250

Introduction :Cette étude porte sur les effets de la disjonction maxillaire rapide sur la propension à l’inclusion canine chez des patients présentant un déficit transversal squelettique maxillaire.Matériels et méthodes :En suivant la méthod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6979da7154b80de677384f698e7c4d77
https://doi.org/10.1051/orthodfr/2017017

Du dépistage du retrait relationnel au début des soins pour un petit garçon porteur d’une fente labio-palatine

Autor: Caroline Frochisse-Durizy, Pascale Gavelle, Bruno Grollemund, Vanessa Delpierre, François Medjkane, Jean-Yves Gall

Publikováno v: Devenir. 28:137-158

Ce travail porte sur l’interet du depistage precoce de difficultes psychopathologiques et evocatrices de retrait relationnel chez les enfants porteurs de fente labio-palatine (FLP). Dans le cadre d’un Programme hospitalier de recherche clinique m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bb8acd3916daaff92844646f1185658f
https://doi.org/10.3917/dev.163.0137