日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

早期间质性肺疾病的分子检测:来自 699 例无关患者的结果

Louvrier, Camille; Nathan, Nadia; Cottin, Vincent; Desroziers, Tifenn; Nau, Valérie; Soreze, Yohan; Dastot-Le Moal, Florence; Reix, Philippe; Bouvry, Diane; Thumerelle, Caroline; Reynaud-Gaubert, Martine; Hadchouel, Alice; Prévot, Grégoire; Manali, Effrosyni; Kannengiesser, Caroline; Ba, Ibrahima; Amselem, Serge; Houdouin, Véronique; Borie, Raphaël; Legendre, Marie

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

欧洲呼吸学会和美国胸科学会关于原发性纤毛运动障碍诊断的指南

Shoemark, Amelia; Goutaki, Myrofora; Kinghorn, BreAnna; Ardura-Garcia, Cristina; Baz-Redón, Noelia; Chilvers, Mark; Davis, Stephanie D; De Brandt, Jana; Dell, Sharon; Dhar, Raja; Dixon, Lucy; Ferkol, Thomas; Hogg, Claire; Legendre, Marie; Leigh, Margaret; Lucas, Jane S; Manion, Michele; Rumman, Nisreen; Toews, Ingrid; Labonte, Valerie; Wee, Wallace B; Kouis, Panayiotis; Horani, Amjad

Interleukin-34 orchestrates bone formation through its binding to bone morphogenic proteins.

白细胞介素-34通过与骨形态发生蛋白结合来调控骨形成

Muñoz-Garcia Javier, Vargas-Franco Jorge W, Schiavone Kristina, Keatinge Marcus T, Young Robin, Amiaud Jérôme, Fradet Laurie, Jégou Jean-François, Yagita Hideo, Blin-Wakkach Claudine, Wakkach Abdelilah, Cochonneau Denis, Ollivier Emilie, Pugière Martine, Henriquet Corinne, Legendre Marie, Giurgea Irina, Amselem Serge, Heymann Marie-Françoise, Télétchéa Stéphane, Lézot Frédéric, Heymann Dominique

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

自身炎症性疾病中的体细胞嵌合 NLRC4 变异:功能特征及嵌合水平与疾病发病年龄和严重程度的相关性

Diab Farah, Louvrier Camille, Fabre Marc, Lin Christine, Rabbaa Mira, Assrawi Eman, Daskalopoulou Aphrodite, Mani Rahma, Dastot Le Moal Florence, Piterboth William, Legendre Marie, Amselem Serge, Karabina Sonia Athina, Giurgea Irina

Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency

CFTR调节剂治疗ABCA3转运蛋白缺乏引起的间质性肺病患者的疗效和安全性

Le Brun, Mathilde; Nathan, Nadia; Louvrier, Camille; Legendre, Marie; Feuillet, Severine; Frija-Masson, Justine; Onanga, Mwetty; Morer, Lise; Debray, Marie-Pierre; Fajac, Isabelle; Burgel, Pierre-Régis; Marchand-Adam, Sylvain; Crestani, Bruno; Borie, Raphaël

Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants

SFTPA1或SFTPA2致病变异携带者间质性肺病和肺癌的发生率

Ducrot, Lucas; Nathan, Nadia; Benusiglio, Patrick R; Borie, Raphael; Nuel, Gregory; Legendre, Marie

Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.

破译三种 NKX2-1 变体在儿童间质性肺病超重症中的致病性。

Soreze Yohan David, Desroziers-Louedec Tifenn, Carré Aurore, Diab Farah, Daskalopoulou Aphrodite, Starck Julie, Nau Valérie, Legendre Marie, Karabina Sonia-Athina, Houdouin Véronique, Coulomb-L'herminé Aurore, Louvrier Camille, Nathan Nadia

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort

ABCA3 患者的表型-基因型相关性——RespiRare队列研究

Fleury, Manon; Delestrain, Céline; Hadchouel, Alice; Mazenq, Julie; Benhamida, Myriam; Bernard, Anne-Sophie; Borie, Raphaël; Brouard, Jacques; Corvol, Harriet; Cros, Pierrick; Delacourt, Christophe; Desroziers, Tifenn; Dubus, Jean-Christophe; Egron, Carole; Epaud, Ralph; Fayon, Michael; Forgeron, Aude; Giovannini-Chami, Lisa; Marguet, Christophe; Masson-Rouchaud, Alexandra; Petat, Hortense; Renoux, Marie-Catherine; Roditis, Léa; Thumerelle, Caroline; Vigier, Clémentine; L'Herminé, Aurore Coulomb; Pointe, Hubert Ducou le; Fanen, Pascale; Fletcher, Camille; Sileo, Chiara; Berteloot, Laureline; Louvrier, Camille; de Becdelièvre, Alix; Legendre, Marie; Nathan, Nadia

High risk of lung cancer in surfactant-related gene variant carriers

表面活性物质相关基因变异携带者罹患肺癌的风险较高

Brudon, Alexandre; Legendre, Marie; Mageau, Arthur; Bermudez, Julien; Bonniaud, Philippe; Bouvry, Diane; Cadranel, Jacques; Cazes, Aurélie; Crestani, Bruno; Dégot, Tristan; Delestrain, Céline; Diesler, Rémi; Epaud, Ralph; Philippot, Quentin; Théou-Anton, Nathalie; Kannengiesser, Caroline; Ba, Ibrahima; Debray, Marie-Pierre; Fanen, Pascale; Manali, Efrosine; Papiris, Spyros; Nathan, Nadia; Amselem, Serge; Gondouin, Antoine; Guillaumot, Anne; Andréjak, Claire; Jouneau, Stephane; Beltramo, Guillaume; Uzunhan, Yurdagul; Galodé, François; Westeel, Virginie; Mehdaoui, Anas; Hirschi, Sandrine; Leroy, Sylvie; Marchand-Adam, Sylvain; Nunes, Hilario; Picard, Clément; Prévot, Grégoire; Reynaud-Gaubert, Martine; De Vuyst, Paul; Wemeau, Lidwine; Defossez, Gautier; Zalcman, Gérard; Cottin, Vincent; Borie, Raphael