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Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C, Fournier T, Jéru I, Vignaud ML, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C. Gosseaume C, et al. Among authors: lascols o. Eur J Endocrinol. 2023 Mar 2;188(3):lvad023. doi: 10.1093/ejendo/lvad023. Eur J Endocrinol. 2023. PMID: 36806620
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Treiber G, Flaus Furmaniuk A, Guilleux A, Medjane S, Bonfanti O, Schneebeli S, Bernard C, Le-Moullec N, Bakiri F, Pholsena M, Rollot O, Vatier C, Jarlet E, Jéru I, Lascols O, Darcel F, Domun B, Venault A, Venault S, Jacquemont ML, Doray B, Maiza JC, Cogne M, Vigouroux C, Nobécourt E. Treiber G, et al. Among authors: lascols o. Eur J Endocrinol. 2021 Aug 27;185(4):453-462. doi: 10.1530/EJE-21-0282. Eur J Endocrinol. 2021. PMID: 34292171
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.
Jéru I, Vantyghem MC, Bismuth E, Cervera P, Barraud S; PLIN1-Study Group; Auclair M, Vatier C, Lascols O, Savage DB, Vigouroux C. Jéru I, et al. Among authors: lascols o. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6025-6032. doi: 10.1210/jc.2019-00849. J Clin Endocrinol Metab. 2019. PMID: 31504636 Free PMC article.
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Jéru I, et al. Among authors: lascols o. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.53. Epub 2016 May 18. Eur J Hum Genet. 2016. PMID: 27189019 Free PMC article. No abstract available.
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Jéru I, et al. Among authors: lascols o. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102. Epub 2016 Aug 3. Eur J Hum Genet. 2017. PMID: 27485410 Free PMC article. No abstract available.
93 results