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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Among authors: jimenez armijo a. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.
Jimenez-Armijo A, Morkmued S, Ahumada JT, Kharouf N, de Feraudy Y, Gogl G, Riet F, Niederreither K, Laporte J, Birling MC, Selloum M, Herault Y, Hernandez M, Bloch-Zupan A. Jimenez-Armijo A, et al. Sci Rep. 2024 Jan 3;14(1):445. doi: 10.1038/s41598-023-50870-2. Sci Rep. 2024. PMID: 38172607 Free PMC article.
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.
Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V. Bugueno IM, et al. Among authors: jimenez armijo a. Genes Dis. 2024 Apr 20;11(5):101303. doi: 10.1016/j.gendis.2024.101303. eCollection 2024 Sep. Genes Dis. 2024. PMID: 38721411 Free PMC article. No abstract available.