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107 results

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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Among authors: apparailly f. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 Free PMC article.
Engineering mesenchymal stem cells for immunotherapy.
Jorgensen C, Djouad F, Apparailly F, Noël D. Jorgensen C, et al. Among authors: apparailly f. Gene Ther. 2003 May;10(10):928-31. doi: 10.1038/sj.gt.3302019. Gene Ther. 2003. PMID: 12732877 Review.
Mesenchymal stem cells and rheumatoid arthritis.
Jorgensen C, Djouad F, Fritz V, Apparailly F, Plence P, Noël D. Jorgensen C, et al. Among authors: apparailly f. Joint Bone Spine. 2003 Dec;70(6):483-5. doi: 10.1016/j.jbspin.2003.08.001. Joint Bone Spine. 2003. PMID: 14667559 No abstract available.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: apparailly f. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Imbert-Bouteille M, Mau Them FT, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Geneviève D, Willems M. Imbert-Bouteille M, et al. Among authors: apparailly f. Eur J Med Genet. 2019 Mar;62(3):161-166. doi: 10.1016/j.ejmg.2018.07.003. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006060
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M. Ruault V, et al. Among authors: apparailly f. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.
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: apparailly f. Sci Rep. 2021 Feb 18;11(1):4172. doi: 10.1038/s41598-021-83539-9. Sci Rep. 2021. PMID: 33603056 Free PMC article.
107 results