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Page 1
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: de graeve f. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanné-Chantelot C, Létourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: de graeve f. PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630. PLoS One. 2010. PMID: 21049026 Free PMC article.
Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
Cauchi S, Meyre D, Durand E, Proença C, Marre M, Hadjadj S, Choquet H, De Graeve F, Gaget S, Allegaert F, Delplanque J, Permutt MA, Wasson J, Blech I, Charpentier G, Balkau B, Vergnaud AC, Czernichow S, Patsch W, Chikri M, Glaser B, Sladek R, Froguel P. Cauchi S, et al. Among authors: de graeve f. PLoS One. 2008 May 7;3(5):e2031. doi: 10.1371/journal.pone.0002031. PLoS One. 2008. PMID: 18461161 Free PMC article.
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, Nicolescu R, Cohen L, Zagury JF, Amouyal M, Weill J, Muller J, Sand O, Delobel B, Froguel P, Bonnefond A. Montagne L, et al. Among authors: de graeve f. Mol Metab. 2018 Jul;13:1-9. doi: 10.1016/j.molmet.2018.05.005. Epub 2018 May 16. Mol Metab. 2018. PMID: 29784605 Free PMC article.
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes.
Bonnefond A, Sand O, Guerin B, Durand E, De Graeve F, Huyvaert M, Rachdi L, Kerr-Conte J, Pattou F, Vaxillaire M, Polak M, Scharfmann R, Czernichow P, Froguel P. Bonnefond A, et al. Among authors: de graeve f. Diabetologia. 2012 Oct;55(10):2845-2847. doi: 10.1007/s00125-012-2645-7. Epub 2012 Jul 18. Diabetologia. 2012. PMID: 22806356 No abstract available.
34 results