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

Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes

非典型糖尿病的临床特征:来自 GENEPEDIAB 研究的关于 1 型糖尿病和单基因糖尿病之间谱系的见解

Harvengt, Antoine; Pirlot, Gauthier; Denizli, Leyan; Syed, Zain; Welsch, Sophie; Beckers, Dominique; Mouraux, Thierry; Seret, Nicole; Lebrethon, Marie-Christine; Helaers, Raphael; Brouillard, Pascal; Vikkula, Miikka; Lysy, Philippe A

Targeting uPARAP Modifies Lymphatic Vessel Architecture and Attenuates Lymphedema

靶向uPARAP可改变淋巴管结构并减轻淋巴水肿

Gucciardo, Fabrice; Lebeau, Alizée; Pirson, Sébastien; Buntinx, Florence; Ivanova, Elitsa; Blacher, Silvia; Brouillard, Pascal; Deroye, Jonathan; Baudin, Louis; Pirnay, Alexandra; Morfoisse, Florent; Villette, Claire; Nizet, Christophe; Lallemand, François; Munaut, Carine; Alitalo, Kari; Geris, Liesbet; Vikkula, Miikka; Gautier-Isola, Marine; Noel, Agnès

An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma.

内皮细胞 SOX18-甲羟戊酸通路轴使得他汀类药物可用于治疗婴幼儿血管瘤

Holm Annegret, Graus Matthew S, Wylie-Sears Jill, Tan Jerry Wei Heng, Alvarez-Harmon Maya, Borgelt Luke, Nasim Sana, Chung Long, Jain Ashish, Sun Mingwei, Sun Liang, Brouillard Pascal, Lekwuttikarn Ramrada, Qi Yanfei, Teng Joyce, Vikkula Miikka, Kozakewich Harry, Mulliken John B, Francois Mathias, Bischoff Joyce

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

剪接体复合体基因 SNRNP200、SF3B1、SF3B2 和 SF3B4 中可能致病/致病性变异与非综合征性口面裂有关

Ranji, Peyman; Pairet, Eleonore; Helaers, Raphael; Brouillard, Pascal; Bayet, Bénédicte; Gerdom, Alexander; Revencu, Nicole; Vikkula, Miikka

A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms

一种用于识别与基因多态性相关的非典型糖尿病儿科患者的新工具

Welsch, Sophie; Harvengt, Antoine; Gallo, Paola; Martin, Manon; Beckers, Dominique; Mouraux, Thierry; Seret, Nicole; Lebrethon, Marie-Christine; Helaers, Raphaël; Brouillard, Pascal; Vikkula, Miikka; Lysy, Philippe A

Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations

欧洲多中心III期临床试验关于西罗莫司治疗慢血流血管畸形的初步结果

Seront, Emmanuel; Van Damme, An; Legrand, Catherine; Bisdorff-Bresson, Annouk; Orcel, Philippe; Funck-Brentano, Thomas; Sevestre, Marie-Antoinette; Dompmartin, Anne; Quere, Isabelle; Brouillard, Pascal; Revencu, Nicole; De Bortoli, Martina; Hammer, Frank; Clapuyt, Philippe; Dumitriu, Dana; Vikkula, Miikka; Boon, Laurence M

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

双等位基因 ANGPT2 功能丧失会导致严重的早发性非免疫性胎儿水肿

Smeland Marie F, Brouillard Pascal, Prescott Trine, Boon Laurence M, Hvingel Bodil, Nordbakken Cecilie V, Nystad Mona, Holla Øystein L, Vikkula Miikka

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

与常见的或混合型淋巴管畸形相比,CLOVES 中非热点 PIK3CA 突变更为常见。

Brouillard, Pascal; Schlögel, Matthieu J; Homayun Sepehr, Nassim; Helaers, Raphaël; Queisser, Angela; Fastré, Elodie; Boutry, Simon; Schmitz, Sandra; Clapuyt, Philippe; Hammer, Frank; Dompmartin, Anne; Weitz-Tuoretmaa, Annamaria; Laranne, Jussi; Pasquesoone, Louise; Vilain, Catheline; Boon, Laurence M; Vikkula, Miikka

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

肿瘤测序有助于更深入地分析不明原因高危乳腺癌家族中的种系变异。

Van Marcke, Cédric; Helaers, Raphaël; De Leener, Anne; Merhi, Ahmad; Schoonjans, Céline A; Ambroise, Jérôme; Galant, Christine; Delrée, Paul; Rothé, Françoise; Bar, Isabelle; Khoury, Elsa; Brouillard, Pascal; Canon, Jean-Luc; Vuylsteke, Peter; Machiels, Jean-Pascal; Berlière, Martine; Limaye, Nisha; Vikkula, Miikka; Duhoux, François P

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

PDGFRB 基因突变与儿童肌纤维瘤和肌纤维瘤病的关联

Dachy, Guillaume; de Krijger, Ronald R; Fraitag, Sylvie; Théate, Ivan; Brichard, Bénédicte; Hoffman, Suma B; Libbrecht, Louis; Arts, Florence A; Brouillard, Pascal; Vikkula, Miikka; Limaye, Nisha; Demoulin, Jean-Baptiste