Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Tristan Rey"'
Autor:
Isaac Maximiliano Bugueno, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Marie-Cécile Manière, Yann Herault, Agnès Bloch-Zupan, Virginie Haushalter-Laugel
Publikováno v:
Genes and Diseases, Vol 11, Iss 5, Pp 101303- (2024)
Externí odkaz:
https://doaj.org/article/f0428c09b61143d6a0e0564a404cf2f8
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:
Alexandra Jimenez-Armijo, Khadja Oumensour, Bouchra Bousfiha, Tristan Rey, Virginie Laugel-Haushalter, Agnès Bloch-Zupan, Samira El Arabi
Publikováno v:
Frontiers in Dental Medicine, Vol 2 (2021)
This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental absce
Externí odkaz:
https://doaj.org/article/ccf951ee4c8b4f568b38a481af2ba5ff
Autor:
Delphine Wagner, Tristan Rey, Marie-Cécile Maniere, Sarah Dubourg, Agnès Bloch-Zupan, Marion Strub
Publikováno v:
Journal of Oral Biology and Craniofacial Research
Journal of Oral Biology and Craniofacial Research, 2023, 13 (2), pp.169-176. ⟨10.1016/j.jobcr.2023.01.001⟩
Journal of Oral Biology and Craniofacial Research, 2023, 13 (2), pp.169-176. ⟨10.1016/j.jobcr.2023.01.001⟩
Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::792010d1ac8dec1f3033ffcf62c930cc
https://linkinghub.elsevier.com/retrieve/pii/S2212426823000015
https://linkinghub.elsevier.com/retrieve/pii/S2212426823000015
Autor:
Tristan Rey, Abigail Williams, Carla Nishimura, Kirsty McWalter, Alex Cummings, Agnès Bloch-Zupan, Francesca Clementina Radio, Bruno Dallapiccola, Dusica Babovic-Vuksanovic, Maria Lisa Dentici, Emanuele Agolini, Filippo Vairo, J. Austin Hamm, Jennifer A. Sullivan, Kelly Schoch, Brendan C. Lanpher, Chelsea Roadhouse, Ingrid M. Wentzensen, Richard J.H. Smith, Alejandro Ferrer, Arun Ankala, Chumei Li, Sara Loddo, Bradley Bowles, Dario Cocciadiferro, Bénédicte Gérard, Nicholas Stong, Eric W. Klee, Silvia Genovese, Vandana Shashi, Bruno Leheup
Publikováno v:
American Journal of Medical Genetics. Part a
Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baabaedf2843598fccc6efac1caa34cd
https://doi.org/10.1002/ajmg.a.62347
https://doi.org/10.1002/ajmg.a.62347
Publikováno v:
Building Simulation Conference Proceedings.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e8fc9258525e1b8c6d9fbf4a7961f2c
https://doi.org/10.26868/25222708.2021.30901
https://doi.org/10.26868/25222708.2021.30901
Autor:
Marion Delbarre, Antony Le Béchec, Marie-Cécile Manière, Hélène Dollfus, Bénédicte Gérard, Agnès Bloch-Zupan, Megana K. Prasad, Corinne Stoetzel, Jean Muller, Tristan Rey, Marzena Kawczynski, Julien Tarabeux, Jamel Chelly, Virginie Laugel-Haushalter
Publikováno v:
Methods in Molecular Biology ISBN: 9781493990115
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1447f03c964a3eb4855e43beb29a74d8
https://doi.org/10.1007/978-1-4939-9012-2_36
https://doi.org/10.1007/978-1-4939-9012-2_36