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

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

The RaDiCo information system for rare disease cohorts

罕见病队列的RaDiCo信息系统

Landais, Paul; Gueguen, Sonia; Clement, Annick; Amselem, Serge

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

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

SFTPB基因的低效致病变异会导致成人肺纤维化

Desroziers, Tifenn; Prévot, Grégoire; Coulomb, Aurore; Nau, Valérie; Dastot-Le Moal, Florence; Duquesnoy, Philippe; Héry, Mélanie; Le Borgne, Aurélie; Amselem, Serge; Legendre, Marie; Nathan, Nadia

The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature

羟氯喹治疗成人ABCA3纯合复合等位基因患者间质性肺病的临床病程及文献回顾

Legendre, Marie; Darde, Xavier; Ferreira, Marion; Chantot-Bastaraud, Sandra; Campana, Marion; Plantier, Laurent; Nathan, Nadia; Amselem, Serge; Toutain, Annick; Diot, Patrice; Marchand-Adam, Sylvain

RaDiCo, the French national research program on rare disease cohorts

RaDiCo,法国国家罕见病队列研究项目

Amselem, Serge; Gueguen, Sonia; Weinbach, Jérôme; Clement, Annick; Landais, Paul

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

一名17岁男性因POU1F1基因突变导致未经治疗的垂体联合激素缺乏症,出现极度矮小和严重的神经系统损伤

Majdoub, Hussein; Amselem, Serge; Legendre, Marie; Rath, Shoshana; Bercovich, Dani; Tenenbaum-Rakover, Yardena