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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.
Mosbah H, Akinci B, Araújo-Vilar D, Carrion Tudela J, Ceccarini G, Collas P, Farooqi IS, Fernández-Pombo A, Jéru I, Karpe F, Krause K, Maffei M, Miehle K, Oral E, Perez de Tudela N, Prieur X, Rochford J, Sanders R, Santini F, Savage DB, von Schnurbein J, Semple R, Stears A, Sorkina E, Vantyghem MC, Vatier C, Vidal-Puig A, Vigouroux C, Wabitsch M. Mosbah H, et al. Among authors: farooqi is. Ann Endocrinol (Paris). 2022 Dec;83(6):461-468. doi: 10.1016/j.ando.2022.07.674. Epub 2022 Oct 4. Ann Endocrinol (Paris). 2022. PMID: 36206842
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
Mining the human phenome using allelic scores that index biological intermediates.
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW; GIANT Consortium; CRP Consortium; TAG Consortium; Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Smith GD. Evans DM, et al. PLoS Genet. 2013 Oct;9(10):e1003919. doi: 10.1371/journal.pgen.1003919. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204319 Free PMC article.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: farooqi is. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
Classification of Congenital Leptin Deficiency.
von Schnurbein J, Zorn S, Nunziata A, Brandt S, Moepps B, Funcke JB, Hussain K, Farooqi IS, Fischer-Posovszky P, Wabitsch M. von Schnurbein J, et al. Among authors: farooqi is. J Clin Endocrinol Metab. 2024 Mar 12:dgae149. doi: 10.1210/clinem/dgae149. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38470203
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.
Saeed S, Khanam R, Janjua QM, Manzoor J, Ning L, Hanook S, Canouil M, Ali M, Ayesha H, Khan WI, Farooqi IS, Yeo GSH, O'Rahilly S, Bonnefond A, Butt TA, Arslan M, Froguel P. Saeed S, et al. Among authors: farooqi is. Cell Rep Med. 2023 Sep 19;4(9):101187. doi: 10.1016/j.xcrm.2023.101187. Epub 2023 Sep 1. Cell Rep Med. 2023. PMID: 37659411 Free PMC article.
Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity.
Kaisinger LR, Kentistou KA, Stankovic S, Gardner EJ, Day FR, Zhao Y, Mörseburg A, Carnie CJ, Zagnoli-Vieira G, Puddu F, Jackson SP, O'Rahilly S, Farooqi IS, Dearden L, Pantaleão LC, Ozanne SE, Ong KK, Perry JRB. Kaisinger LR, et al. Among authors: farooqi is. Cell Genom. 2023 Aug 2;3(8):100362. doi: 10.1016/j.xgen.2023.100362. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601970 Free PMC article.
229 results