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

Health-related quality of life in adults with epidermolysis bullosa: a cross-sectional study in seven European countries using EQ-5D-5L

表皮松解性大疱症成人患者的健康相关生活质量:一项在七个欧洲国家开展的横断面研究,采用 EQ-5D-5L 量表进行评估

Linertová, Renata; Péntek, Márta; Rodríguez-Díaz, Benjamín; Bodemer, Christine; Hübl, Vinzenz; El Hachem, May; Salamon, Gudrun; Alonso-Ferreira, Verónica; Stefanov, Georgi; Jain, Ritu; Ramallo-Fariña, Yolanda; García-Pérez, Lidia

European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025

欧洲参考网络——欧盟在罕见病和复杂疾病领域的一项旗舰活动:2017年至2025年

Graessner, Holm; Ripp, Sophie; Pereira, Alberto M; Schaefer, Franz; Mathijssen, Irene; Blay, Jean-Yves; Mulders, Peter F A; Evangelista, Teresinha; Ligtenberg, Marjolijn J L; Wilde, Arthur A M; Ladenstein, Ruth; Lohse, Ansgar W; Mosca, Marta; Swart, Joost Frans; Hernández, Francisco; Fenaux, Pierre; Dollfus, Hélène; Verloes, Alain; Wagner, Thomas; Bodemer, Christine; Wijnen, Rene; Scarpa, Maurizio; Jondeau, Guillaume; Tumienė, Birutė; Gallina, Sandra; Arzimanoglou, Alexis; Sangiorgi, Luca

Redefining tryptase norms in the pediatric population reveals sex-based differences: Clinical implications

重新定义儿童人群的类胰蛋白酶正常值揭示了性别差异:临床意义

Puel, Mathilde; Rossignol, Julien; Devin, Clotilde; Madrange, Marine; Diep, Antoine; Roland, Pascale Nicaise; Chollet-Martin, Sylvie; Husson, Julien; Hermine, Olivier; Bodemer, Christine; Brouzes, Chantal; De Chaisemartin, Luc; Polivka, Laura

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression

KIT基因突变会改变TRF2对端粒的占据情况,并且这种改变与肥大细胞增生症的消退相关。

Bruneau, Julie; Georgin-Lavialle, Sophie; Ladraa, Sophia; Belaid, Zakia; Plo, Isabelle; Letard, Sébastien; Soucie, Erinn; Draskovic, Irena; Goudin, Nicolas; Bouillié, Marie; Lepelletier, Yves; Rossignol, Julien; Polivka, Laura; Frenzel, Laurent; Lortholary, Olivier; Fraitag, Sylvie; Bodemer, Christine; Revy, Patrick; Arock, Michel; Molina, Thierry-Jo; Londono-Vallejo, Arturo; Dubreuil, Patrice; Maouche-Chretien, Leila; Hermine, Olivier

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

Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline

遗传性大疱性表皮松解症食管狭窄的治疗:临床实践指南

El Hachem, May; Caldaro, Tamara; Lara-Corrales, Irene; Pope, Elena; Jones, Rosie; Bageta, Maria L; Heaton, Jennifer; Martinez, Anna E; Ferreira da Rocha, Anna Carolina; Bodemer, Christine; Russo, Claudia; Tagkalidis, Peter; Brains, Lisa M; McGuirk, Simon P; Diamantopoulos, Athanasios; Feinstein, James A; Zambruno, Giovanna; Mayre-Chilton, Kattya; De Angelis, Paola

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.

iSH2 结构域中的体细胞 PIK3R1 突变可被 PI3Kα 抑制剂治疗

Morin Gabriel, Garneau Alexandre P, Bouzakher Nabiha, Ségot Louise, Fraissenon Antoine, Blondel Amélie, Petit Florence, Chopinet Caroline, Mayeux Franck, Fayoux Pierre, Dompmartin Anne, Bodemer Christine, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Legendre Christophe, Broissand Christine, Fraitag Sylvie, Quelin Chloé, Goudin Nicolas, Guibaud Laurent, Canaud Guillaume

Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis

系统性肥大细胞增生症患者骨髓肥大细胞上CD2和CD25表达的特征和相关结局

Rossignol, Julien; Georgin-Lavialle, Sophie; Canioni, Danielle; Beganovic, Omer; Brouzes, Chantal; Fain, Olivier; Heiblig, Maël; Gourguechon, Clément; Guilpain, Philippe; Bulai-Livideanu, Cristina; Barete, Stéphane; Agopian, Julie; Brenet, Fabienne; Dubreuil, Patrice; Lemal, Richard; Tournilhac, Olivier; Terriou, Louis; Launay, David; Bouillet, Laurence; Chatain, Catharina; Damaj, Ghandi; Ballul, Thomas; Greco, Celine; Polivka, Laura; Frenzel, Laurent; Meni, Cécile; Bouktit, Hassiba; Benabou, Dina; Devin, Clotilde; Gaudy-Marqueste, Caroline; Gousseff, Marie; Le Mouel, Edwige; Neel, Antoine; Ranta, Dana; Jaussaud, Roland; Jo Molina, Thierry; Bruneau, Julie; Javier, Rose-Marie; Pelletier, Fabien; Castelain, Florence; Retornaz, Frederique; Cabrera, Quentin; Zunic, Patricia; Gourin, Marie Pierre; Wierzbicka-Hainaut, Ewa; Viallard, Jean François; Lavigne, Christian; Hoarau, Cyrille; Durieu, Isabelle; Dimicoli-Salazar, Sophie; Torregrosa-Diaz, Jose Miguel; Duval, Audrey; Garcelon, Nicolas; Lespinasse, Jeremie; Soria, Angèle; Chantran, Yannick; Arock, Michel; Bodemer, Christine; Lortholary, Olivier; Asnafi, Vahid; Hermine, Olivier; Lhermitte, Ludovic

Muscle Spatial Transcriptomic Reveals Heterogeneous Profiles in Juvenile Dermatomyositis and Persistence of Abnormal Signature After Remission

肌肉空间转录组学揭示幼年皮肌炎的异质性特征及缓解后异常特征的持续存在

Tragin, Margot; Degrelle, Séverine A; Periou, Baptiste; Bader-Meunier, Brigitte; Barnerias, Christine; Bodemer, Christine; Desguerre, Isabelle; Rodero, Mathieu Paul; Authier, François Jérôme; Gitiaux, Cyril

Mepyramine targets mutant Nav1.7 channels to relieve pain and erythema in primary erythromelalgia patients

美吡拉明通过靶向突变型Nav1.7通道来缓解原发性红斑肢痛患者的疼痛和红斑。

Ducrocq, Myriam; Penalba, Virginie; Castillo, Laura; Bodemer, Christine; Greco, Céline; Delmas, Patrick