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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A. Sparago A, et al. Among authors: rezwan fi. Clin Epigenetics. 2019 Dec 11;11(1):190. doi: 10.1186/s13148-019-0760-8. Clin Epigenetics. 2019. PMID: 31829238 Free PMC article.
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.
Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockett GA, Arshad H, Wilson DI, Holloway JW, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: rezwan fi. J Med Genet. 2014 Apr;51(4):229-38. doi: 10.1136/jmedgenet-2013-102116. Epub 2014 Feb 5. J Med Genet. 2014. PMID: 24501229 Free PMC article.
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ. Docherty LE, et al. Among authors: rezwan fi. Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086. Nat Commun. 2015. PMID: 26323243 Free PMC article.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: rezwan fi. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL. Jeffries AR, et al. Among authors: rezwan fi. Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3. Genome Res. 2019. PMID: 31160375 Free PMC article.
DNA methylation links prenatal smoking exposure to later life health outcomes in offspring.
Wiklund P, Karhunen V, Richmond RC, Parmar P, Rodriguez A, De Silva M, Wielscher M, Rezwan FI, Richardson TG, Veijola J, Herzig KH, Holloway JW, Relton CL, Sebert S, Järvelin MR. Wiklund P, et al. Among authors: rezwan fi. Clin Epigenetics. 2019 Jul 1;11(1):97. doi: 10.1186/s13148-019-0683-4. Clin Epigenetics. 2019. PMID: 31262328 Free PMC article.
62 results