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Page 1
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: vigouroux c. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.
Antiinsulin receptor autoantibodies induce insulin receptors to constitutively associate with insulin receptor substrate-1 and -2 and cause severe cell resistance to both insulin and insulin-like growth factor I.
Auclair M, Vigouroux C, Desbois-Mouthon C, Deibener J, Kaminski P, Lascols O, Cherqui G, Capeau J, Caron M. Auclair M, et al. Among authors: vigouroux c. J Clin Endocrinol Metab. 1999 Sep;84(9):3197-206. doi: 10.1210/jcem.84.9.5965. J Clin Endocrinol Metab. 1999. PMID: 10487687
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S. Caux F, et al. Among authors: vigouroux c. J Clin Endocrinol Metab. 2003 Mar;88(3):1006-13. doi: 10.1210/jc.2002-021506. J Clin Endocrinol Metab. 2003. PMID: 12629077
[Diabetes and genetic and acquired lipodystrophy syndrome].
Capeau J, Magré J, Vigouroux C, Caron M, Maachi M, Dubosclard E, Lascols O, Bastard JP. Capeau J, et al. Among authors: vigouroux c. Journ Annu Diabetol Hotel Dieu. 2003:99-109. Journ Annu Diabetol Hotel Dieu. 2003. PMID: 12868305 Review. French. No abstract available.
Type A insulin resistance syndrome revealing a novel lamin A mutation.
Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Béréziat V, Fève B, Richard I, Capeau J, Chanson P, Vigouroux C. Young J, et al. Among authors: vigouroux c. Diabetes. 2005 Jun;54(6):1873-8. doi: 10.2337/diabetes.54.6.1873. Diabetes. 2005. PMID: 15919811
Diseases of adipose tissue: genetic and acquired lipodystrophies.
Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C, Bastard JP. Capeau J, et al. Among authors: vigouroux c. Biochem Soc Trans. 2005 Nov;33(Pt 5):1073-7. doi: 10.1042/BST0331073. Biochem Soc Trans. 2005. PMID: 16246048 Review.
[Primary lipodystrophies].
Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C. Capeau J, et al. Among authors: vigouroux c. Ann Endocrinol (Paris). 2007 Feb;68(1):10-20. doi: 10.1016/j.ando.2006.12.003. Epub 2007 Feb 21. Ann Endocrinol (Paris). 2007. PMID: 17320032 French.
Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.
Caron M, Auclair M, Donadille B, Béréziat V, Guerci B, Laville M, Narbonne H, Bodemer C, Lascols O, Capeau J, Vigouroux C. Caron M, et al. Among authors: vigouroux c. Cell Death Differ. 2007 Oct;14(10):1759-67. doi: 10.1038/sj.cdd.4402197. Epub 2007 Jul 6. Cell Death Differ. 2007. PMID: 17612587
222 results