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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: mazodier k. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Bansept C, et al. Among authors: mazodier k. Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9. Mitochondrion. 2023. PMID: 36509339
Bilateral Breast Ulcers: Granulomatosis with Polyangiitis.
Jarrot PA, Pelletier ML, Brun M, Penicaud M, Mazodier K, Benyamine A, Grande JD, Jean R, Casanova D, Kaplanski G, Weiller PJ. Jarrot PA, et al. Among authors: mazodier k. Am J Med. 2019 Feb;132(2):179-181. doi: 10.1016/j.amjmed.2018.09.008. Epub 2018 Sep 19. Am J Med. 2019. PMID: 30240685 No abstract available.
IgG4-related systemic disease: features and treatment response in a French cohort: results of a multicenter registry.
Ebbo M, Daniel L, Pavic M, Sève P, Hamidou M, Andres E, Burtey S, Chiche L, Serratrice J, Longy-Boursier M, Ruivard M, Haroche J, Godeau B, Beucher AB, Berthelot JM, Papo T, Pennaforte JL, Benyamine A, Jourde N, Landron C, Roblot P, Moranne O, Silvain C, Granel B, Bernard F, Veit V, Mazodier K, Bernit E, Rousset H, Boucraut J, Boffa JJ, Weiller PJ, Kaplanski G, Aucouturier P, Harlé JR, Schleinitz N. Ebbo M, et al. Among authors: mazodier k. Medicine (Baltimore). 2012 Jan;91(1):49-56. doi: 10.1097/MD.0b013e3182433d77. Medicine (Baltimore). 2012. PMID: 22198501 Free article.
Protection from inflammatory organ damage in a murine model of hemophagocytic lymphohistiocytosis using treatment with IL-18 binding protein.
Chiossone L, Audonnet S, Chetaille B, Chasson L, Farnarier C, Berda-Haddad Y, Jordan S, Koszinowski UH, Dalod M, Mazodier K, Novick D, Dinarello CA, Vivier E, Kaplanski G. Chiossone L, et al. Among authors: mazodier k. Front Immunol. 2012 Aug 8;3:239. doi: 10.3389/fimmu.2012.00239. eCollection 2012. Front Immunol. 2012. PMID: 22891066 Free PMC article.
Sarcoidosis Occurring After Solid Cancer: A Nonfortuitous Association: Report of 12 Cases and Review of the Literature.
Grados A, Ebbo M, Bernit E, Veit V, Mazodier K, Jean R, Coso D, Aurran-Schleinitz T, Broussais F, Bouabdallah R, Gravis G, Goncalves A, Giovaninni M, Sève P, Chetaille B, Gavet-Bongo F, Weitten T, Pavic M, Harlé JR, Schleinitz N. Grados A, et al. Among authors: mazodier k. Medicine (Baltimore). 2015 Jul;94(28):e928. doi: 10.1097/MD.0000000000000928. Medicine (Baltimore). 2015. PMID: 26181571 Free PMC article. Review.
Natural Killer Cells Exhibit a Peculiar Phenotypic Profile in Systemic Sclerosis and Are Potent Inducers of Endothelial Microparticles Release.
Benyamine A, Magalon J, Sabatier F, Lyonnet L, Robert S, Dumoulin C, Morange S, Mazodier K, Kaplanski G, Reynaud-Gaubert M, Rossi P, Dignat-George F, Granel B, Paul P. Benyamine A, et al. Among authors: mazodier k. Front Immunol. 2018 Jul 18;9:1665. doi: 10.3389/fimmu.2018.01665. eCollection 2018. Front Immunol. 2018. PMID: 30072999 Free PMC article.
44 results