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Year Number of Results
2005 2
2006 4
2007 1
2008 2
2009 3
2010 1
2011 4
2012 6
2013 3
2014 3
2015 2
2017 1
2019 1
2020 2
2021 1
2022 1
2023 3
2024 3

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36 results

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Page 1
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Bonnefond A, Boissel M, Bolze A, Durand E, Toussaint B, Vaillant E, Gaget S, Graeve F, Dechaume A, Allegaert F, Guilcher DL, Yengo L, Dhennin V, Borys JM, Lu JT, Cirulli ET, Elhanan G, Roussel R, Balkau B, Marre M, Franc S, Charpentier G, Vaxillaire M, Canouil M, Washington NL, Grzymski JJ, Froguel P. Bonnefond A, et al. Among authors: dechaume a. Nat Metab. 2020 Oct;2(10):1126-1134. doi: 10.1038/s42255-020-00294-3. Epub 2020 Oct 12. Nat Metab. 2020. PMID: 33046911 Free article.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel AL, Thauvin-Robinet C, Saveanu A, Cherifi BG, Le Beyec-Le Bihan J, Froguel P, Bonnefond A. Le Collen L, et al. Among authors: dechaume a. Genet Med. 2023 Jul;25(7):100857. doi: 10.1016/j.gim.2023.100857. Epub 2023 Apr 21. Genet Med. 2023. PMID: 37092539
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.
Cornière N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D. Cornière N, et al. Among authors: dechaume a. J Med Genet. 2022 Nov;59(11):1035-1043. doi: 10.1136/jmedgenet-2021-108256. Epub 2022 Feb 3. J Med Genet. 2022. PMID: 35115415 Free PMC article.
Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach.
Bonnefond A, Yengo L, Dechaume A, Canouil M, Castelain M, Roger E, Allegaert F, Caiazzo R, Raverdy V, Pigeyre M, Arredouani A, Borys JM, Lévy-Marchal C, Weill J, Roussel R, Balkau B, Marre M, Pattou F, Brousseau T, Froguel P. Bonnefond A, et al. Among authors: dechaume a. BMC Med. 2017 Feb 23;15(1):37. doi: 10.1186/s12916-017-0784-x. BMC Med. 2017. PMID: 28228143 Free PMC article.
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: dechaume a. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.
Mejía-Benítez MA, Bonnefond A, Yengo L, Huyvaert M, Dechaume A, Peralta-Romero J, Klünder-Klünder M, García Mena J, El-Sayed Moustafa JS, Falchi M, Cruz M, Froguel P. Mejía-Benítez MA, et al. Among authors: dechaume a. Diabetologia. 2015 Feb;58(2):290-4. doi: 10.1007/s00125-014-3441-3. Epub 2014 Nov 14. Diabetologia. 2015. PMID: 25394825
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: dechaume a. 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.
36 results