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Page 1
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. 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: docherty le. 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.
An atypical case of hypomethylation at multiple imprinted loci.
Baple EL, Poole RL, Mansour S, Willoughby C, Temple IK, Docherty LE, Taylor R, Mackay DJ. Baple EL, et al. Among authors: docherty le. Eur J Hum Genet. 2011 Mar;19(3):360-2. doi: 10.1038/ejhg.2010.218. Epub 2011 Jan 5. Eur J Hum Genet. 2011. PMID: 21206512 Free PMC article.
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium. Poole RL, et al. Among authors: docherty le. Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913548
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK. Turner CL, et al. Among authors: docherty le. Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27. Eur J Hum Genet. 2010. PMID: 20104244 Free PMC article.