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ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: delmas j. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
[Lacrimal duct infections].
Robert PY, Delmas J, Vernat-Tabarly O, Rocher M. Robert PY, et al. Among authors: delmas j. J Fr Ophtalmol. 2024 Nov 1;47(10):104345. doi: 10.1016/j.jfo.2024.104345. Online ahead of print. J Fr Ophtalmol. 2024. PMID: 39488146 Free article. Review. French.
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
Marin V, Lebreton L, Guibet C, Mesli S, Redonnet-Vernhet I, Dexant M, Lamireau D, Roche S, Gaschignard M, Delmas J, Margot H, Bar C. Marin V, et al. Among authors: delmas j. Front Genet. 2024 Sep 11;15:1432272. doi: 10.3389/fgene.2024.1432272. eCollection 2024. Front Genet. 2024. PMID: 39323869 Free PMC article.
Cellular pattern and orbital fat involvement are possible risk factors for the failure of corticosteroids in patients with pure idiopathic orbital inflammation syndrome: lessons from the French prospective SIOI cohort study (part II).
La Rosa A, Groh M, Martin A, Tran Ba S, Cucherousset N, Mouriaux F, Sedira N, Héron E, Galatoire O, Saadoun D, Abbas A, Bassirou M, Vicaut E, Dhote R, Abad S; French Orbital Inflammation Study Group (GFEOI) and collaborators. La Rosa A, et al. BMJ Open Ophthalmol. 2024 Sep 23;9(1):e001663. doi: 10.1136/bmjophth-2024-001663. BMJ Open Ophthalmol. 2024. PMID: 39313294 Free PMC article.
184 results