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Year Number of Results
1998 2
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73 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: vaillant e. 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.
Incidence, prevalence and clinical presentation of inflammatory bowel diseases in Northern France: a 30-year population-based study.
Sarter H, Crétin T, Savoye G, Fumery M, Leroyer A, Dauchet L, Paupard T, Coevoet H, Wils P, Richard N, Turck D, Ley D, Gower-Rousseau C; EPIMAD study Group. Sarter H, et al. Lancet Reg Health Eur. 2024 Oct 18;47:101097. doi: 10.1016/j.lanepe.2024.101097. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39478988 Free PMC article.
Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.
Saeed S, Siegert AM, Tung YCL, Khanam R, Janjua QM, Manzoor J, Derhourhi M, Toussaint B, Lam BY, Mahmoud SA, Vaillant E, Buse Falay E, Amanzougarene S, Ayesha H, Khan WI, Ramazan N, Saudek V, O'Rahilly S, Goldstone AP, Arslan M, Bonnefond A, Froguel P, Yeo GS. Saeed S, et al. Among authors: vaillant e. J Clin Invest. 2025 Jun 22;135(16):e191008. doi: 10.1172/JCI191008. eCollection 2025 Aug 15. J Clin Invest. 2025. PMID: 40549565 Free PMC article.
Monoallelic pathogenic variants in LEPR do not cause obesity.
Delplanque J, Le Collen L, Loiselle H, Leloire A, Toussaint B, Vaillant E, Charpentier G, Franc S, Balkau B, Marre M, Henriques E, Buse Falay E, Derhourhi M, Froguel P, Bonnefond A. Delplanque J, et al. Among authors: vaillant e. Am J Hum Genet. 2024 Dec 5;111(12):2668-2674. doi: 10.1016/j.ajhg.2024.10.014. Epub 2024 Nov 18. Am J Hum Genet. 2024. PMID: 39561769 Free PMC article. Clinical Trial.
Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.
Meulebrouck S, Merrheim J, Queniat G, Bourouh C, Derhourhi M, Boissel M, Yi X, Badreddine A, Boutry R, Leloire A, Toussaint B, Amanzougarene S, Vaillant E, Durand E, Loiselle H, Huyvaert M, Dechaume A, Scherrer V, Marchetti P, Balkau B, Charpentier G, Franc S, Marre M, Roussel R, Scharfmann R, Cnop M, Canouil M, Baron M, Froguel P, Bonnefond A. Meulebrouck S, et al. Among authors: vaillant e. Nat Commun. 2024 Aug 5;15(1):6627. doi: 10.1038/s41467-024-51004-6. Nat Commun. 2024. PMID: 39103322 Free PMC article.
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.
Le Collen L, Desgrouas C, Lukas Croisier C, Creugnet B, Dechaume A, Toussaint B, Vaillant E, Amanzougarene S, Buse Falay E, Derhourhi M, Lourdelle A, Delemer B, Bonello-Palot N, Vaxillaire M, Badens C, Froguel P, Bonnefond A. Le Collen L, et al. Among authors: vaillant e. Eur J Endocrinol. 2025 Mar 3;192(3):240-247. doi: 10.1093/ejendo/lvaf031. Eur J Endocrinol. 2025. PMID: 39993161
Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Saeed S, Ning L, Badreddine A, Mirza MU, Boissel M, Khanam R, Manzoor J, Janjua QM, Khan WI, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Trant JF, Siegert AM, Lam BYH, Yeo GSH, Chabraoui L, Touzani A, Kulkarni A, Farooqi IS, Bonnefond A, Arslan M, Froguel P. Saeed S, et al. Among authors: vaillant e. Diabetes. 2023 Sep 1;72(9):1228-1234. doi: 10.2337/db22-1017. Diabetes. 2023. PMID: 37083980 Free PMC article.
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM, Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA, Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani A, Lang J, Arslan M, Froguel P. Saeed S, et al. Among authors: vaillant e. Nat Genet. 2018 Feb;50(2):175-179. doi: 10.1038/s41588-017-0023-6. Epub 2018 Jan 8. Nat Genet. 2018. PMID: 29311637 Free article.
73 results