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French practical guidelines for the diagnosis and management of AA amyloidosis.
Georgin-Lavialle S, Savey L, Buob D, Bastard JP, Fellahi S, Karras A, Boffa JJ, Grateau G; Collaborators; Audard V, Bridoux F, Damade R, Deshayes S, Giurgea I, Granel B, Hachulla E, Hot A, Jaccard A, Knebelmann B, Marciano S, Pelcot F, Sarrabay G, Boursier G, Sellam J, Terre A, Bourguiba R. Georgin-Lavialle S, et al. Among authors: giurgea i. Rev Med Interne. 2023 Feb;44(2):62-71. doi: 10.1016/j.revmed.2022.12.004. Epub 2023 Jan 23. Rev Med Interne. 2023. PMID: 36759076 Free article. Review.
Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis.
Deshayes S, Fraisse T, Fellahi S, Steichen O, Savey L, Turlin B, Munteanu M, Aouba A, Bourguiba R, Hentgen V, Faintuch JM, Giurgea I, Grateau G, Bastard JP, Georgin-Lavialle S. Deshayes S, et al. Among authors: giurgea i. Sci Rep. 2022 Oct 5;12(1):16644. doi: 10.1038/s41598-022-17358-x. Sci Rep. 2022. PMID: 36198677 Free PMC article.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Louvrier C, El Khouri E, Grall Lerosey M, Quartier P, Guerrot AM, Bader Meunier B, Chican J, Mohammad M, Assrawi E, Daskalopoulou A, Arenas Garcia A, Copin B, Piterboth W, Dastot Le Moal F, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: giurgea i. Arthritis Rheumatol. 2023 Mar;75(3):468-474. doi: 10.1002/art.42354. Epub 2022 Dec 28. Arthritis Rheumatol. 2023. PMID: 36122175
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, Bralo MP, Tenorio-Castaño J, Lapunzina P, Almoguera B, Lopez-Grondona F, Sticht H, Zweier C. Popp B, et al. Among authors: giurgea i. Clin Genet. 2022 Dec;102(6):517-523. doi: 10.1111/cge.14206. Epub 2022 Aug 16. Clin Genet. 2022. PMID: 35908153 Free PMC article.
Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD. Delaleu J, et al. Among authors: giurgea i. Rev Med Interne. 2022 Dec;43(12):727-738. doi: 10.1016/j.revmed.2022.06.007. Epub 2022 Jul 20. Rev Med Interne. 2022. PMID: 35870984 Review.
RNF213-associated urticarial lesions with hypercytokinemia.
Louvrier C, Awad F, Cosnes A, El Khouri E, Assrawi E, Daskalopoulou A, Copin B, Bocquet H, Chantot Bastaraud S, Arenas Garcia A, Dastot Le Moal F, De La Grange P, Duquesnoy P, Guerrera CI, Piterboth W, Ortonne N, Chosidow O, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: giurgea i. J Allergy Clin Immunol. 2022 Dec;150(6):1545-1555. doi: 10.1016/j.jaci.2022.06.016. Epub 2022 Jun 30. J Allergy Clin Immunol. 2022. PMID: 35780935 Free article.
88 results