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803 results

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Page 1
The Case | Hypokalemia and severe renal loss of sodium.
Lemoine S, Eladari D, Juillard L, Bonnefond A, Froguel P, Dubourg L. Lemoine S, et al. Among authors: froguel p. Kidney Int. 2020 Jun;97(6):1305-1306. doi: 10.1016/j.kint.2019.12.022. Kidney Int. 2020. PMID: 32444101 Free article. No abstract available.
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.
Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Sparsø T, Holmkvist J, Marchand M, Delplanque J, Lobbens S, Rocheleau G, Durand E, De Graeve F, Chèvre JC, Borch-Johnsen K, Hartikainen AL, Ruokonen A, Tichet J, Marre M, Weill J, Heude B, Tauber M, Lemaire K, Schuit F, Elliott P, Jørgensen T, Charpentier G, Hadjadj S, Cauchi S, Vaxillaire M, Sladek R, Visvikis-Siest S, Balkau B, Lévy-Marchal C, Pattou F, Meyre D, Blakemore AI, Jarvelin MR, Walley AJ, Hansen T, Dina C, Pedersen O, Froguel P. Bouatia-Naji N, et al. Among authors: froguel p. Nat Genet. 2009 Jan;41(1):89-94. doi: 10.1038/ng.277. Epub 2008 Dec 7. Nat Genet. 2009. PMID: 19060909
Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits.
Bonnefond A, Vaxillaire M, Labrune Y, Lecoeur C, Chèvre JC, Bouatia-Naji N, Cauchi S, Balkau B, Marre M, Tichet J, Riveline JP, Hadjadj S, Gallois Y, Czernichow S, Hercberg S, Kaakinen M, Wiesner S, Charpentier G, Lévy-Marchal C, Elliott P, Jarvelin MR, Horber F, Dina C, Pedersen O, Sladek R, Meyre D, Froguel P. Bonnefond A, et al. Among authors: froguel p. Diabetes. 2009 Nov;58(11):2687-97. doi: 10.2337/db09-0652. Epub 2009 Aug 3. Diabetes. 2009. PMID: 19651813 Free PMC article.
[Inputs from the genetics of fasting glucose: lessons for diabetes].
Bouatia-Naji N, Bonnefond A, Froguel P. Bouatia-Naji N, et al. Among authors: froguel p. Med Sci (Paris). 2009 Nov;25(11):897-902. doi: 10.1051/medsci/20092511897. Med Sci (Paris). 2009. PMID: 19951660 Free article. French. No abstract available.
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.
Meur G, Simon A, Harun N, Virally M, Dechaume A, Bonnefond A, Fetita S, Tarasov AI, Guillausseau PJ, Boesgaard TW, Pedersen O, Hansen T, Polak M, Gautier JF, Froguel P, Rutter GA, Vaxillaire M. Meur G, et al. Among authors: froguel p. Diabetes. 2010 Mar;59(3):653-61. doi: 10.2337/db09-1091. Epub 2009 Dec 10. Diabetes. 2010. PMID: 20007936 Free PMC article.
Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.
Bouatia-Naji N, Bonnefond A, Baerenwald DA, Marchand M, Bugliani M, Marchetti P, Pattou F, Printz RL, Flemming BP, Umunakwe OC, Conley NL, Vaxillaire M, Lantieri O, Balkau B, Marre M, Lévy-Marchal C, Elliott P, Jarvelin MR, Meyre D, Dina C, Oeser JK, Froguel P, O'Brien RM. Bouatia-Naji N, et al. Among authors: froguel p. Diabetes. 2010 Oct;59(10):2662-71. doi: 10.2337/db10-0389. Epub 2010 Jul 9. Diabetes. 2010. PMID: 20622168 Free PMC article.
The emerging genetics of type 2 diabetes.
Bonnefond A, Froguel P, Vaxillaire M. Bonnefond A, et al. Among authors: froguel p. Trends Mol Med. 2010 Sep;16(9):407-16. doi: 10.1016/j.molmed.2010.06.004. Epub 2010 Aug 20. Trends Mol Med. 2010. PMID: 20728409 Review.
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: froguel p. PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630. PLoS One. 2010. PMID: 21049026 Free PMC article.
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
Bonnefond A, Lomberk G, Buttar N, Busiah K, Vaillant E, Lobbens S, Yengo L, Dechaume A, Mignot B, Simon A, Scharfmann R, Neve B, Tanyolaç S, Hodoglugil U, Pattou F, Cavé H, Iovanna J, Stein R, Polak M, Vaxillaire M, Froguel P, Urrutia R. Bonnefond A, et al. Among authors: froguel p. J Biol Chem. 2011 Aug 12;286(32):28414-24. doi: 10.1074/jbc.M110.215822. Epub 2011 May 18. J Biol Chem. 2011. PMID: 21592955 Free PMC article.
803 results