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214 results

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Page 1
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB; LD Screening Consortium. Rubio-Cabezas O, et al. Among authors: vigouroux c. EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037. EMBO Mol Med. 2009. PMID: 20049731 Free PMC article.
Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites.
Magré J, Karayanni C, Hadjiathanasiou CG, Desbois-Mouthon C, Meier M, Vigouroux C, Stavrinadis C, Sinaniotis C, Caron M, Capeau J. Magré J, et al. Among authors: vigouroux c. Diabetes. 1997 Nov;46(11):1901-3. doi: 10.2337/diab.46.11.1901. Diabetes. 1997. PMID: 9356044 No abstract available.
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J. Vigouroux C, et al. Diabetes. 2000 Nov;49(11):1958-62. doi: 10.2337/diabetes.49.11.1958. Diabetes. 2000. PMID: 11078466
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
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Magré J, et al. Among authors: vigouroux c. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
214 results