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33 results

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Page 1
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: copin b. 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.
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C, Ballerini P, Nguyen G, Mincheva Z, Copin B, Bouslama B, Leverger G, Petit A, Favier R, Lapillonne H, Boutroux H. Liu C, et al. Among authors: copin b. EJHaem. 2022 Nov 6;4(1):145-152. doi: 10.1002/jha2.594. eCollection 2023 Feb. EJHaem. 2022. PMID: 36819173 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: copin b. Arthritis Rheumatol. 2023 Mar;75(3):468-474. doi: 10.1002/art.42354. Epub 2022 Dec 28. Arthritis Rheumatol. 2023. PMID: 36122175
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M. Thomas L, et al. Among authors: copin b. J Med Genet. 2024 May 21;61(6):595-604. doi: 10.1136/jmg-2023-109700. J Med Genet. 2024. PMID: 38408845
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M. Mani R, et al. Among authors: copin b. Hum Mutat. 2020 Jan;41(1):115-121. doi: 10.1002/humu.23905. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31469207
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: copin b. J Allergy Clin Immunol. 2020 Apr;145(4):1254-1261. doi: 10.1016/j.jaci.2019.11.035. Epub 2019 Dec 6. J Allergy Clin Immunol. 2020. PMID: 31816408 Free article.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: copin b. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S. Jéru I, et al. Among authors: copin b. Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727. Arthritis Rheumatol. 2014. PMID: 24891336
33 results