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Randall-Type Monoclonal IgE Kappa Light-Heavy Chain Deposition Disease.
Isnard P, Benichou N, Sibon D, Rinsant A, Goujon JM, Touchard G, Ory C, Kaaki S, Colombat M, Do Souto Ferreira L, Avet-Loiseau H, Karras A, Bridoux F, Rabant M. Isnard P, et al. Among authors: touchard g. Kidney Int Rep. 2023 Apr 7;8(7):1464-1468. doi: 10.1016/j.ekir.2023.04.002. eCollection 2023 Jul. Kidney Int Rep. 2023. PMID: 37441467 Free PMC article. No abstract available.
Crystal-storing lymphocytosis.
Izzedine H, Touchard G, Ghez D. Izzedine H, et al. Among authors: touchard g. Am J Hematol. 2024 Jan;99(1):142-143. doi: 10.1002/ajh.26947. Epub 2023 May 10. Am J Hematol. 2024. PMID: 37161841 No abstract available.
Crystalglobulin-Associated Kidney Disease: A Case Report and Literature Review.
Leflot S, Leroy P, Demoulin N, Aydin S, Touchard G, Javaugue V, Vekemans MC, Bridoux F, Morelle J. Leflot S, et al. Among authors: touchard g. Kidney Med. 2022 Mar 10;4(5):100445. doi: 10.1016/j.xkme.2022.100445. eCollection 2022 May. Kidney Med. 2022. PMID: 35479195 Free PMC article.
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Marx D, Dupuis A, Eckly A, Molitor A, Olagne J, Touchard G, Kaaki S, Ory C, Faller AL, Gérard B, Cotter M, Westerberg L, Keszei M, Moulin B, Gachet C, Caillard S, Bahram S, Carapito R. Marx D, et al. Among authors: touchard g. Blood Adv. 2022 Sep 27;6(18):5279-5284. doi: 10.1182/bloodadvances.2021006789. Blood Adv. 2022. PMID: 35404999 Free PMC article.
Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort.
Lefèvre S, Audrézet MP, Halimi JM, Longuet H, Bridoux F, Ecotière L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Lefèvre S, et al. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027. Nephrol Dial Transplant. 2022. PMID: 35108395 Free article.
LC-MS/MS and immuno-electron subtyping combined with genetics show that OSMR mutations cause amyloid deposition of keratins 5/14 in familial primary localized cutaneous amyloidosis.
Bourguiba R, Bachmeyer C, Moguelet P, Kaaki S, Ory C, Touchard G, Cattan E, Georgin-Lavialle S, Colombat M, Valleix S. Bourguiba R, et al. Among authors: touchard g. J Eur Acad Dermatol Venereol. 2022 Jan;36(1):e66-e68. doi: 10.1111/jdv.17630. Epub 2021 Sep 17. J Eur Acad Dermatol Venereol. 2022. PMID: 34459039 No abstract available.
237 results