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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: kharouf n. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A. Laugel-Haushalter V, et al. Among authors: kharouf n. Front Genet. 2019 May 28;10:504. doi: 10.3389/fgene.2019.00504. eCollection 2019. Front Genet. 2019. PMID: 31191616 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. Among authors: kharouf n. 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: kharouf n. 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.
72 results