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收藏分享 收藏 Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implicationsDaskalopoulou, A.; Assrawi, E.; Diab, F.; Louvrier, C.; Samson, M.; Piterboth, W.; Cador-Rousseau, B.; Henno, S.; Legendre, M.; Lipsker, D.; 等. 慢性荨麻疹病灶中的低水平NLRP3嵌合现象：扩展NLRP3相关疾病的表型谱及治疗意义。Br. J. Dermatol. 2025, 193, 914–923. [Google Scholar] [CrossRef]
Daskalopoulou, Aphrodite; Assrawi, Eman; Diab, Farah; Louvrier, Camille; Samson, Maxime; Piterboth, William; Cador-Rousseau, Berengere; Henno, Sebastien; Legendre, Marie; Lipsker, Dan; Amselem, Serge; Karabina, Sonia A.; Giurgea, Irina 分享 收藏 分享 收藏 Clinical correlates of lifetime and current comorbidity patterns in autoimmune and inflammatory diseasesHassler, Signe; Lorenzon, Roberta; Binvignat, Marie; Ribet, Claire; Roux, Alexandra; Johanet, Catherine; Amouyal, Chloe; Amselem, Serge; Berenbaum, Francis; Benveniste, Olivier; Cacoub, Patrice; Grateau, Gilles; Hartemann, Agnes; Saadoun, David; Salem, Joe-Elie; Sellam, Jeremie; Seksik, Philippe; Vicaut, Eric; Mariotti-Ferrandiz, Encarnita; Rosenzwajg, Michelle; Klatzmann, David 分享 收藏 High risk of lung cancer in surfactant-related gene variant carriersBrudon, Alexandre; Legendre, Marie; Mageau, Arthur; Bermudez, Julien; Bonniaud, Philippe; Bouvry, Diane; Cadranel, Jacques; Cazes, Aurelie; Crestani, Bruno; Degot, Tristan; Delestrain, Celine; Diesler, Remi; Epaud, Ralph; Philippot, Quentin; Theou-Anton, Nathalie; Kannengiesser, Caroline; Ba, Ibrahima; Debray, Marie-Pierre; Fanen, Pascale; Manali, Efrosine; Papiris, Spyros; Nathan, Nadia; Amselem, Serge; Gondouin, Antoine; Guillaumot, Anne; Andrejak, Claire; Jouneau, Stephane; Beltramo, Guillaume; Uzunhan, Yurdagul; Galode, Francois; Westeel, Virginie; Mehdaoui, Anas; Hirschi, Sandrine; Leroy, Sylvie; Marchand-Adam, Sylvain; Nunes, Hilario; Picard, Clement; Prevot, Gregoire; Reynaud-Gaubert, Martine; De Vuyst, Paul; Wemeau, Lidwine; Defossez, Gautier; Zalcman, Gerard; Cottin, Vincent; Borie, Raphael 分享 收藏 Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesiaThomas, Lucie; Cuisset, Laurence; Papon, Jean-Francois; Tamalet, Aline; Pin, Isabelle; Abou Taam, Rola; Faucon, Catherine; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Dastot-Le Moal, Florence; Copin, Bruno; Carion, Nathalie; Louis, Bruno; Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre; Mitri, Rana; Coste, Andre; Escudier, Estelle; Thouvenin, Guillaume; Amselem, Serge; Legendre, Marie 分享 收藏 Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adultsDiesler, Remi; Legendre, Marie; Si-Mohamed, Salim; Brillet, Pierre-Yves; Wemeau, Lidwine; Manali, Effrosyni D.; Gagnadoux, Frederic; Hirschi, Sandrine; Lorillon, Gwenael; Reynaud-Gaubert, Martine; Bironneau, Vanessa; Blanchard, Elodie; Bourdin, Arnaud; Dominique, Stephane; Justet, Aurelien; Macey, Julie; Marchand-Adam, Sylvain; Morisse-Pradier, Helene; Nunes, Hilario; Papiris, Spyros A.; Traclet, Julie; Traore, Ibrahim; Crestani, Bruno; Amselem, Serge; Nathan, Nadia; Borie, Raphael; Cottin, Vincent 分享 收藏 分享 收藏 WT SP-A restores abnormal oligomerization and secretion of mutant SFTPA1 and SFTPA2Desroziers, Tifenn; Soreze, Yohan; Fletcher, Camille; Amselem, Serge; Le Moal, Florence Dastot; Nau, Valerie; Louvrier, Camille; Legendre, Marie; Karabina, Sonia; Nathan, Nadia 分享 收藏 分享 收藏 分享 收藏 Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosisDesroziers, Tifenn; Prevot, Gregoire; Coulomb, Aurore; Nau, Valerie; Dastot-Le Moal, Florence; Duquesnoy, Philippe; Hery, Melanie; Le Borgne, Aurelie; Amselem, Serge; Legendre, Marie; Nathan, Nadia 分享 收藏 A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammationEl Khouri, Elma; Diab, Farah; Louvrier, Camille; Assrawi, Eman; Daskalopoulou, Aphrodite; Nguyen, Alexandre; Piterboth, William; Deshayes, Samuel; Desdoits, Alexandra; Copin, Bruno; Le Moal, Florence Dastot; Karabina, Sonia Athina; Amselem, Serge; Aouba, Achille; Giurgea, Irina 分享 收藏 De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory DisorderLouvrier, Camille; El Khouri, Elma; Lerosey, Martine Grall; Quartier, Pierre; Guerrot, Anne-Marie; Meunier, Brigitte Bader; Chican, Julie; Mohammad, Malaika; Assrawi, Eman; Daskalopoulou, Aphrodite; Garcia, Angela Arenas; Copin, Bruno; Piterboth, William; Le Moal, Florence Dastot; Karabina, Sonia A. A.; Amselem, Serge; Giurgea, Irina 分享 收藏 RNF213-associated urticarial lesions with hypercytokinemia伴有高细胞因子血症的RNF213-associated荨疹病变Louvrier, Camille; Awad, Fawaz; Cosnes, Anne; El Khouri, Elma; Assrawi, Eman; Daskalopoulou, Aphrodite; Copin, Bruno; Bocquet, Helene; Bastaraud, Sandra Chantot; Garcia, Angela Arenas; Le Moal, Florence Dastot; De La Grange, Pierre; Duquesnoy, Philippe; Guerrera, Chiara, I; Piterboth, William; Ortonne, Nicolas; Chosidow, Olivier; Karabina, Sonia A.; Amselem, Serge; Giurgea, Irina 分享 收藏 High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary DyskinesiaLegendre, Marie; Thouvenin, Guillaume; Taytard, Jessica; Baron, Marguerite; Le Bourgeois, Muriel; Tamalet, Aline; Mani, Rahma; Jouvion, Gregory; Amselem, Serge; Escudier, Estelle; Beydon, Nicole 分享 收藏 分享 收藏 Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort StudyManali, Effrosyni D.; Kannengiesser, Caroline; Borie, Raphael; Ba, Ibrahima; Bouros, Demosthenes; Markopoulou, Aikaterini; Antoniou, Katerina; Kolilekas, Lykourgos; Papaioannou, Andriana I.; Tzilas, Vasileios; Tzouvelekis, Argyrios; Daniil, Zoe; Fouka, Evangelia; Papakosta, Despoina; Xyfteri, Areti; Karakatsani, Anna; Loukides, Stylianos; Korbila, Ioanna; Tomos, Ioannis P.; Konstantinidis, Athanasios K.; Gogali, Athina; Steiropoulos, Paschalis; Papanikolaou, Ilias C.; Bazaka, Chrysa; Haritou, Aggeliki; Vassilakopoulos, Theodoros; Maniati, Maria; Kagouridis, Konstantinos; Markozannes, Evangelos; Bouros, Evangelos; Rampiadou, Christina; Kounti, Georgia; Trachalaki, Athina; Dimeas, Ilias; Karampitsakos, Theodoros; Lyberopoulos, Panagiotis; Malamadakis, Nikolaos; Spyropoulou, Sofia; Revy, Patrick; Lainey, Elodie; Dieude, Philippe; Rebah, Khedidja; Menard, Christelle; Oudin, Claire; Masson, Cecile; Plessier, Aurelie; Legendre, Marie; Nathan, Nadia; Coulomb-L'Hermine, Aurore; Clement, Annick; Amselem, Serge; Boileau, Catherine; Crestani, Bruno; Papiris, Spyros 分享 收藏 Treatment of Idiopathic Pulmonary Fibrosis with Capsule or Tablet Formulations of Pirfenidone in the Real-Life French RaDiCo-ILD CohortCottin, Vincent; Gueguen, Sonia; Nunes, Hilario; Jouneau, Stephane; Crestani, Bruno; Bonniaud, Philippe; Wemeau, Lidwine; Israel-Biet, Dominique; Reynaud-Gaubert, Martine; Gondouin, Anne; Cadranel, Jacques; Marchand-Adam, Sylvain; Chevereau, Marie; Dufaure-Gare, Isabelle; Amselem, Serge; Clement, Annick 分享 收藏 
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