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Page 1
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, Nicolescu R, Cohen L, Zagury JF, Amouyal M, Weill J, Muller J, Sand O, Delobel B, Froguel P, Bonnefond A. Montagne L, et al. Among authors: derhourhi m. Mol Metab. 2018 Jul;13:1-9. doi: 10.1016/j.molmet.2018.05.005. Epub 2018 May 16. Mol Metab. 2018. PMID: 29784605 Free PMC article.
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: derhourhi m. 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 Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S, Arslan M, Manzoor J, Din SM, Janjua QM, Ayesha H, Ain QT, Inam L, Lobbens S, Vaillant E, Durand E, Derhourhi M, Amanzougarene S, Badreddine A, Berberian L, Gaget S, Khan WI, Butt TA, Bonnefond A, Froguel P. Saeed S, et al. Among authors: derhourhi m. Diabetes. 2020 Jul;69(7):1424-1438. doi: 10.2337/db19-1238. Epub 2020 Apr 29. Diabetes. 2020. PMID: 32349990
Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries.
Vaxillaire M, Bonnefond A, Liatis S, Ben Salem Hachmi L, Jotic A, Boissel M, Gaget S, Durand E, Vaillant E, Derhourhi M, Canouil M, Larcher N, Allegaert F, Medlej R, Chadli A, Belhadj A, Chaieb M, Raposo JF, Ilkova H, Loizou D, Lalic N, Vassallo J, Marre M, Froguel P; MODY-MGSD Study Group. Vaxillaire M, et al. Among authors: derhourhi m. Diabetes Res Clin Pract. 2021 Jan;171:108553. doi: 10.1016/j.diabres.2020.108553. Epub 2020 Nov 24. Diabetes Res Clin Pract. 2021. PMID: 33242514
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: derhourhi m. 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.
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: derhourhi m. 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.
Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.
Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc S, Marre M, Aboulouard S, Salzet M, Canouil M, Derhourhi M, Froguel P, Bonnefond A. Folon L, et al. Among authors: derhourhi m. Lancet Diabetes Endocrinol. 2023 Mar;11(3):182-190. doi: 10.1016/S2213-8587(22)00392-8. Lancet Diabetes Endocrinol. 2023. PMID: 36822744 Free article.
28 results