Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alexandra Jimenez-Armijo"'
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:
Alexandra Jimenez-Armijo, Supawich Morkmued, José Tomás Ahumada, Naji Kharouf, Yvan de Feraudy, Gergo Gogl, Fabrice Riet, Karen Niederreither, Jocelyn Laporte, Marie Christine Birling, Mohammed Selloum, Yann Herault, Magali Hernandez, Agnès Bloch-Zupan
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting ex
Externí odkaz:
https://doaj.org/article/9cf3b6dbe3fe4cbd80179d67cc5a236e
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