Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Agnes Bloch Zupan"'
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:
Jane Hejlesen, Line Underbjerg, Hans Gjørup, Agnes Bloch-Zupan, Tanja Sikjaer, Lars Rejnmark, Dorte Haubek
Publikováno v:
Frontiers in Physiology, Vol 9 (2018)
Background: Dental aberrations have been mentioned in relation to non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP). However, a systematic review of dental characteristics have not been performed. The present systematic r
Externí odkaz:
https://doaj.org/article/50610d6fe1524716889e77a041c3332f
Publikováno v:
Nature Genetics. 54:358-360
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9f52d139eae2e30a08329481c1ec711
https://doi.org/10.1038/s41588-022-01019-w
https://doi.org/10.1038/s41588-022-01019-w
Autor:
Agnes BLOCH-ZUPAN
Publikováno v:
Frontiers in Physiology, Vol 7 (2016)
Externí odkaz:
https://doaj.org/article/52221ca8e95a4b8ab054e241e43d7896
Publikováno v:
Clinical dysmorphology. 26(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0317627f513423e35f781bbad3844f15
https://pubmed.ncbi.nlm.nih.gov/27541981
https://pubmed.ncbi.nlm.nih.gov/27541981
Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2007, 2, pp.17. ⟨10.1186/1750-1172-2-17⟩
Orphanet Journal of Rare Diseases, Vol 2, Iss 1, p 17 (2007)
Orphanet Journal of Rare Diseases, BioMed Central, 2007, 2, pp.17. ⟨10.1186/1750-1172-2-17⟩
Orphanet Journal of Rare Diseases, Vol 2, Iss 1, p 17 (2007)
Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4b6c51fd4bb0a17f59c818095f962d
https://hal.archives-ouvertes.fr/hal-00190900
https://hal.archives-ouvertes.fr/hal-00190900
Publikováno v:
Europe PubMed Central
Palatal clefting is often associated with premature fusion of cranial sutures in human craniosynostosis syndromes, many of which are characterised by mutations affecting the fibroblast growth factor receptor (FGFR) gene family. In palatal fusion, epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c17a9cf9bcf918485bf485ddde539556
https://pubmed.ncbi.nlm.nih.gov/11330859
https://pubmed.ncbi.nlm.nih.gov/11330859
Publikováno v:
Europe PubMed Central
The deciduous teeth of a 5-year-old girl affected by a protracted type of infantile globoid-cell leukodystrophy or Krabbe's disease, a galactosylceramide lipidosis, were examined with the scanning and transmission electron microscopes. The diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::553c9d09b7d8d7804c6e5746ec72c859
http://europepmc.org/abstract/med/8087804
http://europepmc.org/abstract/med/8087804
Publikováno v:
Europe PubMed Central
Secondary palatal fusion is dependent on targeted removal of the epithelium between the palatal shelves. Aseptically delivered rat embryos 15 through 18 days post coitum (dpc) were probed with DIG-labeled antisense and sense ssDNA probes for spliced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::80a97cff48da3354c0afb88111c8c409
http://europepmc.org/abstract/med/10410903
http://europepmc.org/abstract/med/10410903