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

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

与P2RY8变异相关的家族性狼疮:探索单基因疾病与狼疮遗传易感性之间的界限

David, Clémence; Welfringer-Morin, Anne; Seabra, Luis; Crow, Yanick J; Jachiet, Marie; Frémond, Marie-Louise

Characteristics and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis

弥漫性皮肤肥大细胞增生症的特征和治疗策略

Pernea, Paula; Méni, Cecile; Rossignol, Julien; Aubert, Hélène; Barbarot, Sébastien; Bellon, Nathalia; Bing-Lecointe, Anne-Claire; Bonigen, Julie; Bursztejn, Anne-Claire; Carré, Delphine; Phan, Alice; Puzenat, Eve; Skowron, François; Vabres, Pierre; Welfringer-Morin, Anne; Drabent, Philippe; Fraitag, Sylvie; Garcelon, Nicolas; Agopian, Julie; Dubreuil, Patrice; Mallet, Stéphanie; Barete, Stéphane; Arock, Michel; Hermine, Olivier; Bodemer, Christine; Polivka, Laura

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

色素失禁症是胸腺发育不良、I型干扰素自身抗体和病毒性疾病的病因。

Jérémie Rosain ,Tom Le Voyer # ,Xian Liu # ,Adrian Gervais # ,Laura Polivka # ,Axel Cederholm # ,Laureline Berteloot # ,Audrey V Parent # ,Alessandra Pescatore # ,Ezia Spinosa # ,Snezana Minic # ,Ana Elisa Kiszewski # ,Miyuki Tsumura # ,Chloé Thibault # ,Maria Esnaola Azcoiti # ,Jelena Martinovic # ,Quentin Philippot # ,Taushif Khan # ,Astrid Marchal # ,Bénédicte Charmeteau-De Muylder # ,Lucy Bizien # ,Caroline Deswarte # ,Lillia Hadjem ,Marie-Odile Fauvarque ,Karim Dorgham ,Daniel Eriksson ,Emilia Liana Falcone ,Mathilde Puel ,Sinem Ünal ,Amyrath Geraldo ,Corentin Le Floc'h ,Hailun Li ,Sylvie Rheault ,Christine Muti ,Claire Bobrie-Moyrand ,Anne Welfringer-Morin ,Ramsay L Fuleihan ,Romain Lévy ,Marie Roelens ,Liwei Gao ,Marie Materna ,Silvia Pellegrini ,Lorenzo Piemonti ,Emilie Catherinot ,Jean-Christophe Goffard ,Arnaud Fekkar ,Aissata Sacko-Sow ,Camille Soudée ,Soraya Boucherit ,Anna-Lena Neehus ,Cristina Has ,Stefanie Hübner ,Géraldine Blanchard-Rohner ,Blanca Amador-Borrero ,Takanori Utsumi ,Maki Taniguchi ,Hiroo Tani ,Kazushi Izawa ,Takahiro Yasumi ,Sotaro Kanai ,Mélanie Migaud ,Mélodie Aubart ,Nathalie Lambert ,Guy Gorochov ,Capucine Picard ,Claire Soudais ,Anne-Sophie L'Honneur ,Flore Rozenberg ,Joshua D Milner ,Shen-Ying Zhang ,Pierre Vabres ,Dusan Trpinac ,Nico Marr ,Nathalie Boddaert ,Isabelle Desguerre ,Manolis Pasparakis ,Corey N Miller ,Cláudia S Poziomczyk ,Laurent Abel ,Satoshi Okada ,Emmanuelle Jouanguy ,Rémi Cheynier ,Qian Zhang ,Aurélie Cobat ,Vivien Béziat ,Bertrand Boisson ,Julie Steffann ,Francesca Fusco ,Matilde Valeria Ursini ,Smail Hadj-Rabia ,Christine Bodemer ,Jacinta Bustamante ,Hervé Luche ,Anne Puel # ,Gilles Courtois # ,Paul Bastard # ,Nils Landegren # ,Mark S Anderson # ,Jean-Laurent Casanova #

Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management

表皮坏死松解症的眼部后遗症:法国全国实践审计、文献综述及建议的治疗方案

Thorel, Dhyna; Ingen-Housz-Oro, Saskia; Benaïm, Daniel; Daien, Vincent; Gabison, Eric; Saunier, Valentine; Béral, Laurence; Touboul, David; Brémond-Gignac, Dominique; Robert, Matthieu; Vasseur, Robin; Royer, Gérard; Dereure, Olivier; Milpied, Brigitte; Bernier, Claire; Welfringer-Morin, Anne; Bodemer, Christine; Cordel, Nadège; Tauber, Marie; Burillon, Carole; Servant, Marion; Couret, Chloe; Vabres, Bertrand; Tétart, Florence; Cassagne, Myriam; Kuoch, Marie-Ange; Muraine, Marc; Delcampe, Agnès; Gueudry, Julie

Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection

无症状SARS-CoV-2感染后幼年皮肌炎的发生和复发

Rodero, Mathieu Paul; Pelleau, Stéphane; Welfringer-Morin, Anne; Duffy, Darragh; Melki, Isabelle; Bader-Meunier, Brigitte

Correction to: Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection

更正:无症状SARS-CoV-2感染后幼年皮肌炎的发病和复发

Rodero, Mathieu Paul; Pelleau, Stéphane; Welfringer-Morin, Anne; Duffy, Darragh; Melki, Isabelle; Bader-Meunier, Brigitte

Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement

Stevens-Johnson综合征和中毒性表皮坏死松解症急性期眼部受累的管理:法国国家实践审计、文献综述和共识协议

Thorel, D; Ingen-Housz-Oro, S; Royer, G; Delcampe, A; Bellon, N; Bodemer, C; Welfringer-Morin, A; Bremond-Gignac, D; Robert, M P; Tauber, M; Malecaze, F; Dereure, O; Daien, V; Colin, A; Bernier, C; Couret, C; Vabres, B; Tetart, F; Milpied, B; Cornut, T; Ben Said, B; Burillon, C; Cordel, N; Beral, L; de Prost, N; Wolkenstein, P; Muraine, M; Gueudry, J