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TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S. Rittore C, et al. Among authors: soler s. Sci Rep. 2021 Feb 18;11(1):4172. doi: 10.1038/s41598-021-83539-9. Sci Rep. 2021. PMID: 33603056 Free PMC article.
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I. van Gijn ME, et al. Among authors: soler s. Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23. Eur J Hum Genet. 2008. PMID: 18648395
Risk of recurrence after discontinuing anticoagulation in patients with COVID-19- associated venous thromboembolism: a prospective multicentre cohort study.
Jara-Palomares L, Bikdeli B, Jiménez D, Muriel A, Demelo-Rodríguez P, Moustafa F, Villalobos A, López-Miguel P, López-Jiménez L, Otálora S, Peris ML, Amado C, Chopard R, Rivera-Cívico F, Monreal M; RIETE Investigators. Jara-Palomares L, et al. EClinicalMedicine. 2024 May 25;73:102659. doi: 10.1016/j.eclinm.2024.102659. eCollection 2024 Jul. EClinicalMedicine. 2024. PMID: 38828131 Free PMC article.
180 results