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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: arslan m. Diabetes. 2023 Sep 1;72(9):1228-1234. doi: 10.2337/db22-1017. Diabetes. 2023. PMID: 37083980
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martínez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, Sand O, Froguel P. Bonnefond A, et al. Among authors: arslan m. Diabetes Care. 2014 Feb;37(2):460-7. doi: 10.2337/dc13-0698. Epub 2013 Sep 16. Diabetes Care. 2014. PMID: 24041679
Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.
Saeed S, Bonnefond A, Manzoor J, Shabbir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Saeed S, et al. Among authors: arslan m. Obesity (Silver Spring). 2015 Aug;23(8):1687-95. doi: 10.1002/oby.21142. Epub 2015 Jul 14. Obesity (Silver Spring). 2015. PMID: 26179253 Free 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: arslan m. 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.
1,316 results