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

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

专家设计的情况说明书和基于人工智能的患者症状分析,旨在解决遗传代谢疾病诊断延误问题

Cano, Aline; Chen, Xiaoyi; Khemiri, Azza; Brassier, Anais; Jean-Baptiste, Arnoux; Froissart, Roseline; Bouchereau, Juliette; Hoebeke, Célia; Mazodier, Karin; Héron, Bénédicte; Labrune, Philippe; Caillaud, Catherine; Cheillan, David; Nadjar, Yann; Pichard, Samia; Imbard, Apolline; Pettazzoni, Magali; Douillard, Claire; Nadia, Belmatoug; Calatayud, Anna-Line; Zerguini, Mounira; Garcelon, Nicolas; Benoist, Jean-François; Acquaviva, Cécile; De Lonlay, Pascale

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases

新冠病毒感染对遗传性代谢疾病患者的影响:法国罕见病医疗网络 (IMDs Healthcare Network for Rare Diseases) 的一项全国多中心研究

Douillard, Claire; Poujois, Aurélia; Belmatoug, Nadia; Lidove, Olivier; Leguy-Seguin, Vanessa; Mauhin, Wladimir; Gorce, Magali; Cano, Aline; Labrune, Philippe; Mazodier, Karin; Wicker, Camille; Maillot, François; Brassier, Anaïs; Guemann, Anne-Sophie; Habes, Dalila; Abi-Warde, Marie-Thérèse; Redonnet-Vernhet, Isabelle; Germain, Dominique P; Lavigne, Christian; Khemiri, Azza; Mention, Karine; Dao, Myriam; Héron, Bénédicte; Berger, Marc G; Lonlay, Pascale de

Determinants of social participation in patients living with systemic lupus erythematosus: the Psy-LUP multicentre study

影响系统性红斑狼疮患者社会参与度的决定因素:Psy-LUP 多中心研究

Manet, Cécile; Aim, Marie-Anastasie; Queyrel, Viviane; Faraut, Julien; Costedoat-Chalumeau, Nathalie; Daugas, Eric; Hachulla, Eric; Harle, Jean-Robert; Huart, Antoine; Hummel, Aurélie; Kaplanski, Gilles; Mazodier, Karin; Mancini, Julien; Sarrot-Reynauld, Francoise; Schleinitz, Nicolas; Swiader, Laure; Tieulie, Nathalie; Manet, Philippe; Dany, Lionel; Chiche, Laurent; Jourde-Chiche, Noemie

Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.

对患有 HLH 的成年人进行功能和基因检测发现,其表现为炎症特征,而不是细胞毒性缺陷

Carvelli Julien, Piperoglou Christelle, Farnarier Catherine, Vely Frédéric, Mazodier Karin, Audonnet Sandra, Nitschke Patrick, Bole-Feysot Christine, Boucekine Mohamed, Cambon Audrey, Hamidou Mohamed, Harle Jean-Robert, de Saint Basile Geneviève, Kaplanski Gilles

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

UNC45A基因功能丧失突变会导致一种综合征,其症状包括胆汁淤积、腹泻、听力障碍和骨骼脆弱。

Esteve, Clothilde; Francescatto, Ludmila; Tan, Perciliz L; Bourchany, Aurélie; De Leusse, Cécile; Marinier, Evelyne; Blanchard, Arnaud; Bourgeois, Patrice; Brochier-Armanet, Céline; Bruel, Ange-Line; Delarue, Arnauld; Duffourd, Yannis; Ecochard-Dugelay, Emmanuelle; Hery, Géraldine; Huet, Frédéric; Gauchez, Philippe; Gonzales, Emmanuel; Guettier-Bouttier, Catherine; Komuta, Mina; Lacoste, Caroline; Maudinas, Raphaelle; Mazodier, Karin; Rimet, Yves; Rivière, Jean-Baptiste; Roquelaure, Bertrand; Sigaudy, Sabine; Stephenne, Xavier; Thauvin-Robinet, Christel; Thevenon, Julien; Sarles, Jacques; Levy, Nicolas; Badens, Catherine; Goulet, Olivier; Hugot, Jean-Pierre; Katsanis, Nicholas; Faivre, Laurence; Fabre, Alexandre

Sarcoidosis Occurring After Solid Cancer: A Nonfortuitous Association: Report of 12 Cases and Review of the Literature

实体瘤后发生结节病:一种非偶然的关联:12例病例报告及文献综述

Grados, Aurélie; Ebbo, Mikael; Bernit, Emmanuelle; Veit, Véronique; Mazodier, Karin; Jean, Rodolphe; Coso, Diane; Aurran-Schleinitz, Thérèse; Broussais, Florence; Bouabdallah, Reda; Gravis, Gwenaelle; Goncalves, Anthony; Giovaninni, Marc; Sève, Pascal; Chetaille, Bruno; Gavet-Bongo, Florence; Weitten, Thierry; Pavic, Michel; Harlé, Jean-Robert; Schleinitz, Nicolas

Protection from inflammatory organ damage in a murine model of hemophagocytic lymphohistiocytosis using treatment with IL-18 binding protein.

在噬血细胞性淋巴组织细胞增生症小鼠模型中,使用 IL-18 结合蛋白治疗可保护炎症器官免受损伤

Chiossone Laura, Audonnet Sandra, Chetaille Bruno, Chasson Lionel, Farnarier Catherine, Berda-Haddad Yael, Jordan Stefan, Koszinowski Ulrich H, Dalod Marc, Mazodier Karin, Novick Daniela, Dinarello Charles A, Vivier Eric, Kaplanski Gilles

Severe imbalance of IL-18/IL-18BP in patients with secondary hemophagocytic syndrome

继发性噬血细胞综合征患者中IL-18/IL-18BP严重失衡

Mazodier, Karin; Marin, Valérie; Novick, Daniela; Farnarier, Catherine; Robitail, Stéphane; Schleinitz, Nicolas; Veit, Véronique; Paul, Pascale; Rubinstein, Menachem; Dinarello, Charles A; Harlé, Jean-Robert; Kaplanski, Gilles