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MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.
Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Züchner S, Bonnefond A, Froguel P, Christin-Maitre S, Delemer B, Fève B, Laville M, Robert J, Tenenbaum F, Lascols O, Vigouroux C, Jéru I. Capel E, et al. Among authors: lascols o. J Clin Lipidol. 2018 Nov-Dec;12(6):1420-1435. doi: 10.1016/j.jacl.2018.07.009. Epub 2018 Jul 25. J Clin Lipidol. 2018. PMID: 30158064
Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism.
de Kerdanet M, Caron-Debarle M, Nivot S, Gaillot T, Lascols O, Fremont B, Bonaure M, Gie S, Massart C, Capeau J. de Kerdanet M, et al. Among authors: lascols o. Diabetes Metab. 2015 Sep;41(4):331-337. doi: 10.1016/j.diabet.2014.11.001. Epub 2014 Nov 25. Diabetes Metab. 2015. PMID: 25465274
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G, Magno S, Pelosini C, Ferrari F, Sessa MR, Scabia G, Maffei M, Jéru I, Lascols O, Vigouroux C, Santini F. Ceccarini G, et al. Among authors: lascols o. Front Endocrinol (Lausanne). 2020 Feb 14;11:39. doi: 10.3389/fendo.2020.00039. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32117065 Free PMC article.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Avila M, et al. Among authors: lascols o. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.
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: lascols o. 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.
Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes.
Vigouroux C, Fajas L, Khallouf E, Meier M, Gyapay G, Lascols O, Auwerx J, Weissenbach J, Capeau J, Magré J. Vigouroux C, et al. Among authors: lascols o. Diabetes. 1998 Mar;47(3):490-2. doi: 10.2337/diabetes.47.3.490. Diabetes. 1998. PMID: 9519760 No abstract available.
93 results