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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: philippe j. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity.
Boutant M, Ramos OH, Lecoeur C, Vaillant E, Philippe J, Zhang P, Perilhou A, Valcarcel B, Sebert S, Jarvelin MR, Balkau B, Scott D, Froguel P, Vaxillaire M, Vasseur-Cognet M. Boutant M, et al. Among authors: philippe j. PLoS One. 2012;7(5):e35810. doi: 10.1371/journal.pone.0035810. Epub 2012 May 14. PLoS One. 2012. PMID: 22606236 Free PMC article.
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E, Gjesing AP, Andersson EA, Czernichow S, Hercberg S, Hadjadj S, Charpentier G, Lantieri O, Balkau B, Marre M, Pedersen O, Hansen T, Froguel P, Vaxillaire M. Bonnefond A, et al. Among authors: philippe j. Diabetologia. 2013 Mar;56(3):492-6. doi: 10.1007/s00125-012-2794-8. Epub 2012 Dec 6. Diabetologia. 2013. PMID: 23224494
Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.
Semplici F, Vaxillaire M, Fogarty S, Semache M, Bonnefond A, Fontés G, Philippe J, Meur G, Diraison F, Sessions RB, Rutter J, Poitout V, Froguel P, Rutter GA. Semplici F, et al. Among authors: philippe j. J Biol Chem. 2011 Dec 23;286(51):44005-44014. doi: 10.1074/jbc.M111.254995. Epub 2011 Nov 7. J Biol Chem. 2011. PMID: 22065581 Free PMC article.
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.
Riveline JP, Rousseau E, Reznik Y, Fetita S, Philippe J, Dechaume A, Hartemann A, Polak M, Petit C, Charpentier G, Gautier JF, Froguel P, Vaxillaire M. Riveline JP, et al. Among authors: philippe j. Diabetes Care. 2012 Feb;35(2):248-51. doi: 10.2337/dc11-1469. Epub 2011 Dec 30. Diabetes Care. 2012. PMID: 22210575 Free PMC article.
Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.
Saeed S, Bonnefond A, Manzoor J, Shabbir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Saeed S, et al. Among authors: philippe j. Obesity (Silver Spring). 2015 Aug;23(8):1687-95. doi: 10.1002/oby.21142. Epub 2015 Jul 14. Obesity (Silver Spring). 2015. PMID: 26179253 Free article.
679 results