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

Availability, use, efficacy and safety of bevacizumab in European hereditary haemorrhagic telangiectasia centres

贝伐单抗在欧洲遗传性出血性毛细血管扩张症中心的可及性、使用情况、疗效和安全性

期刊:British Journal of Clinical Pharmacology
影响因子:3
doi:10.1002/bcp.70273
Haahr, Pernille D; Kjeldsen, Anette D; Fialla, Annette D; Fargeton, Anne-Emmanuelle; Guilhem, Alexandre; Buscarini, Elisabetta; Droege, Freya; Manfredi, Guido; Mager, Hans-Jurgen; Saurin, Jean-Christophe; Kjeldsen, Jens; Hessels, Josefien; Post, Marco C; Mandic, Robert; Boerman, Sanne; Kasper-Virchow, Stefan; Möller, Sören; Geisthoff, Urban; Dupuis-Girod, Sophie
发表日期：2026
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Executive summary of the 15th HHT international scientific conference

第十五届HHT国际科学会议执行摘要

期刊:Angiogenesis
影响因子:9.2
doi:10.1007/s10456-025-09997-1
Droege, Freya; Guilhem, Alexandre; Ricard, Nicolas; Spiekerkoetter, Edda; Hermann, Ruben; Rossi, Elisa; Bailly, Sabine; Dupuis-Girod, Sophie; Clancy, Marianne; Friday, Cassi
发表日期：2025
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Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

上游重叠的开放阅读框终止于 c.125，导致内皮糖蛋白减少，从而导致遗传性出血性毛细血管扩张症。

期刊:Communications Biology
影响因子:5.1
doi:10.1038/s42003-025-08461-6
Proust, Carole; Deiber, Clémence; Meguerditchian, Caroline; Tusseau, Maud; Guilhem, Alexandre; Mohamed, Shirine; Goyenvalle, Aurélie; Jaspard-Vinassa, Béatrice; Dupuis-Girod, Sophie; Trégouët, David-Alexandre; Soukarieh, Omar
发表日期：2025
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Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort

开发一种功能性检测方法，用于表征法国出血性遗传性毛细血管扩张症队列中的SMAD4变异体

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110797
Despas, Louane; Vialet, Lea; Tusseau, Maud; Azemard, Valentin; Beurier-Soulat, Lea; Al Tabosh, Tala; Auboiroux, Celine; Parrot, Antoine; Blivet, Sandra; Le Guillou Horn, Xavier Maximin; Lesca, Gaetan; Dufernez, Fabienne; Coulet, Florence; Richardot, Charlotte; Macias, Maria; Giraud, Sophie; Guilhem, Alexandre; Dupuis-Girod, Sophie; Bailly, Sabine; Desroches-Castan, Agnes
SMAD4
发表日期：2025
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BEST study: one-year descriptive follow-up of bevacizumab treatment in hereditary haemorrhagic telangiectasia post-BABH interventional study

最佳研究：贝伐珠单抗治疗遗传性出血性毛细血管扩张症患者（BABH 干预研究后）的一年描述性随访

期刊:Therapeutic Advances in Hematology
影响因子:3.1
doi:10.1177/20406207241300828
Dupuis-Girod, Sophie; Decullier, Evelyne; Rivière, Sophie; Lavigne, Christian; Grobost, Vincent; Leguy-Seguin, Vanessa; Maillard, Hélène; Chinet, Thierry; Fargeton, Anne-Emmanuelle; Guilhem, Alexandre; Hermann, Ruben
发表日期：2025
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Health-Related Quality of Life Measurement in Adults With Sickle Cell Disease in Steady State: Experience of One French Reference Center

镰状细胞病成人患者稳定期健康相关生活质量测量：法国一家参考中心的经验

期刊:Mediterranean Journal of Hematology and Infectious Diseases
影响因子:1.5
doi:10.4084/MJHID.2025.065
Cannas, Giovanna; Poutrel, Solène; Virot, Emilie; Marie, Manon; Guilhem, Alexandre; El-Kanouni, Amal; Bourgeay, Richard; Mutumwa, Marie-Grace; Elhamri, Mohamed; Hot, Arnaud
细胞生物学
发表日期：2025
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Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

ADAMTS6 功能缺失变异：结缔组织、心脏缺陷、胸主动脉瘤和神经发育综合征 (CHANS)

期刊:
影响因子:
doi:10.1101/2025.05.02.25326573
Huguet Herrero, Júlia; Arnaud, Pauline; Bibimbou, Angelique; Seifert, Deborah E; Mougin, Zakaria; Benarroch, Louise; Michot, Caroline; Capri, Yline; Ruaud, Lyse; Dupuis-Girod, Sophie; Guilhem, Alexandre; Beyer, Constance; Bajolle, Fanny; Milleron, Oliver; Jondeau, Guillaume; Hanna, Nadine; Reinhardt, Dieter P; Guo, Dong-Chuan; Milewicz, Dianna; Boileau, Catherine; Aubart, Mélodie; Mead, Timothy J; Le Goff, Carine
心血管
动脉瘤
ADA
神经科学
发育与干细胞
发表日期：2025
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Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances

遗传性出血性毛细血管扩张症：从信号传导机制的揭示到治疗进展

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI176379
Al Tabosh, Tala; Al Tarrass, Mohammad; Tourvieilhe, Laura; Guilhem, Alexandre; Dupuis-Girod, Sophie; Bailly, Sabine
信号转导
发表日期：2024
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Elastin turnover in Williams-Beuren and 7q11.23 microduplication syndromes

Williams-Beuren综合征和7q11.23微重复综合征中的弹性蛋白周转

期刊:European Heart Journal Open
影响因子:
doi:10.1093/ehjopen/oeae045
Guilhem, Alexandre; Ruet, Severine; Edery, Patrick; Acquaviva, Cecile; Rossi, Massimiliano
发表日期：2024
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Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia.

遗传性出血性毛细血管扩张症中 T 辅助淋巴细胞的促血管生成变化

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2023.1321182
Guilhem Alexandre, Ciudad Marion, Aubriot-Lorton Marie-Hélène, Greigert Hélène, Cladière Claudie, Leguy-Seguin Vanessa, Audia Sylvain, Samson Maxime, Bonnotte Bernard
细胞生物学
血管生成
发表日期：2023
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