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Page 1
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Le Collen L, et al. Among authors: bonnefond a. Orphanet J Rare Dis. 2022 Feb 28;17(1):86. doi: 10.1186/s13023-022-02248-2. Orphanet J Rare Dis. 2022. PMID: 35227307 Free PMC article.
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: bonnefond a. 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. 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: bonnefond a. 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: bonnefond a. 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: bonnefond a. 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. 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.
266 results