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Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: dechaume a. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group. Vaxillaire M, et al. Among authors: dechaume a. Diabetes. 2007 Jun;56(6):1737-41. doi: 10.2337/db06-1540. Epub 2007 Mar 27. Diabetes. 2007. PMID: 17389331
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group. Polak M, et al. Among authors: dechaume a. Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2. Diabetes. 2008. PMID: 18171712
The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.
Vaxillaire M, Cavalcanti-Proença C, Dechaume A, Tichet J, Marre M, Balkau B, Froguel P; DESIR Study Group. Vaxillaire M, et al. Among authors: dechaume a. Diabetes. 2008 Aug;57(8):2253-7. doi: 10.2337/db07-1807. Epub 2008 Jun 12. Diabetes. 2008. PMID: 18556336 Free PMC article.
37 results