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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: badreddine 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.
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: badreddine a. Diabetes. 2020 Jul;69(7):1424-1438. doi: 10.2337/db19-1238. Epub 2020 Apr 29. Diabetes. 2020. PMID: 32349990
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: badreddine 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.
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: badreddine a. 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.
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: badreddine a. Diabetes. 2023 Sep 1;72(9):1228-1234. doi: 10.2337/db22-1017. Diabetes. 2023. PMID: 37083980
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: badreddine a. Genet Med. 2023 Jul;25(7):100857. doi: 10.1016/j.gim.2023.100857. Epub 2023 Apr 21. Genet Med. 2023. PMID: 37092539 Free article.
Pharmacological HDAC inhibition impairs pancreatic β-cell function through an epigenome-wide reprogramming.
Oger F, Moreno M, Derhourhi M, Thiroux B, Berberian L, Bourouh C, Durand E, Amanzougarene S, Badreddine A, Blanc E, Molendi-Coste O, Pineau L, Pasquetti G, Rolland L, Carney C, Bornaque F, Courty E, Gheeraert C, Eeckhoute J, Dombrowicz D, Kerr-Conte J, Pattou F, Staels B, Froguel P, Bonnefond A, Annicotte JS. Oger F, et al. Among authors: badreddine a. iScience. 2023 Jun 30;26(7):107231. doi: 10.1016/j.isci.2023.107231. eCollection 2023 Jul 21. iScience. 2023. PMID: 37496675 Free PMC article.
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: badreddine a. Nat Commun. 2024 Aug 5;15(1):6627. doi: 10.1038/s41467-024-51004-6. Nat Commun. 2024. PMID: 39103322 Free PMC article.
30 results