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Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, Lévy-Marchal C, Tauber M, Scharfmann R, Weill J, Aubert C, Kerr-Conte J, Pattou F, Roussel R, Balkau B, Marre M, Boissel M, Derhourhi M, Gaget S, Canouil M, Froguel P, Bonnefond A. Baron M, et al. Among authors: philippe j. Nat Med. 2019 Nov;25(11):1733-1738. doi: 10.1038/s41591-019-0622-0. Epub 2019 Nov 7. Nat Med. 2019. PMID: 31700171 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.
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
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.
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.
673 results