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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: auclair m. 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.
Perilipin deficiency and autosomal dominant partial lipodystrophy.
Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magré J, Savage DB, Vigouroux C. Gandotra S, et al. Among authors: auclair m. N Engl J Med. 2011 Feb 24;364(8):740-8. doi: 10.1056/NEJMoa1007487. N Engl J Med. 2011. PMID: 21345103 Free PMC article.
Molecular and Cellular Bases of Lipodystrophy Syndromes.
Zammouri J, Vatier C, Capel E, Auclair M, Storey-London C, Bismuth E, Mosbah H, Donadille B, Janmaat S, Fève B, Jéru I, Vigouroux C. Zammouri J, et al. Among authors: auclair m. Front Endocrinol (Lausanne). 2022 Jan 3;12:803189. doi: 10.3389/fendo.2021.803189. eCollection 2021. Front Endocrinol (Lausanne). 2022. PMID: 35046902 Free PMC article. Review.
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C. Le Dour C, et al. Among authors: auclair m. J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23. J Clin Endocrinol Metab. 2011. PMID: 21346069
Lipodystrophic syndromes: From diagnosis to treatment.
Sollier C, Vatier C, Capel E, Lascols O, Auclair M, Janmaat S, Fève B, Jéru I, Vigouroux C. Sollier C, et al. Among authors: auclair m. Ann Endocrinol (Paris). 2020 Feb;81(1):51-60. doi: 10.1016/j.ando.2019.10.003. Epub 2019 Dec 16. Ann Endocrinol (Paris). 2020. PMID: 31982105 Review.
197 results