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Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: tounian p. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Wintjens R, Bozon D, Belabbas K, MBou F, Girardet JP, Tounian P, Jolly M, Boccara F, Cohen A, Karsenty A, Dubern B, Carel JC, Azar-Kolakez A, Feillet F, Labarthe F, Gorsky AM, Horovitz A, Tamarindi C, Kieffer P, Lienhardt A, Lascols O, Di Filippo M, Dufernez F. Wintjens R, et al. Among authors: tounian p. J Lipid Res. 2016 Mar;57(3):482-91. doi: 10.1194/jlr.P055699. Epub 2016 Jan 22. J Lipid Res. 2016. PMID: 26802169 Free PMC article.
Intermediate-Term Efficacy and Tolerance of Statins in Children.
Mamann N, Lemale J, Karsenty A, Dubern B, Girardet JP, Tounian P. Mamann N, et al. Among authors: tounian p. J Pediatr. 2019 Jul;210:161-165. doi: 10.1016/j.jpeds.2019.03.032. Epub 2019 Apr 30. J Pediatr. 2019. PMID: 31053349
SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia.
Gallo A, Charriere S, Vimont A, Chapman MJ, Angoulvant D, Boccara F, Cariou B, Carreau V, Carrié A, Bruckert E, Béliard S; French REgistry of Familial hypERCHOLesterolemia (REFERCHOL) investigators. Gallo A, et al. Atherosclerosis. 2020 Aug;306:41-49. doi: 10.1016/j.atherosclerosis.2020.06.011. Epub 2020 Jul 6. Atherosclerosis. 2020. PMID: 32688103 Free article.
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S, Poitou C, Le Beyec-Le Bihan J, Karsenty A, Lemale J, Pelloux V, Lacorte JM, Carel JC, Lecomte N, Storey C, De Filippo G, Coupaye M, Oppert JM, Tounian P, Clément K, Dubern B. Courbage S, et al. Among authors: tounian p. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2991-3006. doi: 10.1210/clinem/dgab404. J Clin Endocrinol Metab. 2021. PMID: 34097736 Free article.
150 results