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

Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients

PRDM10 分析在 Birt-Hogg-Dubé 综合征诊断中的应用价值有限:313 例连续患者的经验

Hercent, Agathe; Ba, Ibrahima; Tchernitchko, Dimitri

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

FPN1 铁输出蛋白功能的双重丧失和获得导致了铁转运蛋白疾病表型

Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac

ABCB6 polymorphisms are not overly represented in patients with porphyria

ABCB6基因多态性在卟啉症患者中并不常见。

Colin P Farrell,Gäel Nicolas,Robert J Desnick,Charles J Parker,Jerome Lamoril,Laurent Gouya,Zoubida Karim,Dimitri Tchernitchko,Brenden Chan,Herve Puy,John D Phillips

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

肽转运蛋白2的一种变体可预测卟啉症相关肾病的严重程度

Tchernitchko, Dimitri; Tavernier, Quentin; Lamoril, Jérôme; Schmitt, Caroline; Talbi, Neila; Lyoumi, Said; Robreau, Anne-Marie; Karim, Zoubida; Gouya, Laurent; Thervet, Eric; Karras, Alexandre; Puy, Hervé; Pallet, Nicolas

The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease

TNFRSF1A R92Q 突变在类风湿性关节炎中较为常见,但目前尚无证据表明该突变与该疾病存在关联或连锁关系。

Dieudé, Philippe; Goossens, Michel; Cornélis, François; Michou, Laëtitia; Bardin, Thomas; Tchernitchko, Dimitri Olegovitch

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

地中海家族热中p.E148Q MEFV等位基因的家族内分离分析

Tchernitchko, D O; Gérard-Blanluet, M; Legendre, M; Cazeneuve, C; Grateau, G; Amselem, S