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Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq AL, Deméocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, de Herder W, Pattou F, Tétreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenický P. Chasseloup F, et al. Among authors: proust a. Lancet Diabetes Endocrinol. 2021 Dec;9(12):813-824. doi: 10.1016/S2213-8587(21)00236-9. Epub 2021 Oct 13. Lancet Diabetes Endocrinol. 2021. PMID: 34655521
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand J. Chappell K, et al. Among authors: proust a. Clin Chem. 2022 Feb 1;68(2):313-321. doi: 10.1093/clinchem/hvab220. Clin Chem. 2022. PMID: 34871369
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.
Picard V, Proust A, Eveillard M, Flatt JF, Couec ML, Caillaux G, Fénéant-Thibault M, Finkelstein A, Raphaël M, Delaunay J, Bruce LJ, Pissard S, Thomas C. Picard V, et al. Among authors: proust a. Blood. 2014 Mar 20;123(12):1963-5. doi: 10.1182/blood-2014-01-548149. Blood. 2014. PMID: 24652967 Free article. No abstract available.
245 results