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The role and interaction of imprinted genes in human fetal growth.
Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P. Moore GE, et al. Among authors: thomas ac. Philos Trans R Soc Lond B Biol Sci. 2015 Mar 5;370(1663):20140074. doi: 10.1098/rstb.2014.0074. Philos Trans R Soc Lond B Biol Sci. 2015. PMID: 25602077 Free PMC article. Review.
The speech gene FOXP2 is not imprinted.
Thomas AC, Frost JM, Ishida M, Vargha-Khadem F, Moore GE, Stanier P. Thomas AC, et al. J Med Genet. 2012 Nov;49(11):669-70. doi: 10.1136/jmedgenet-2012-101242. Epub 2012 Oct 2. J Med Genet. 2012. PMID: 23033221 No abstract available.
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
Demetriou C, Abu-Amero S, Thomas AC, Ishida M, Aggarwal R, Al-Olabi L, Leon LJ, Stafford JL, Syngelaki A, Peebles D, Nicolaides KH, Regan L, Stanier P, Moore GE. Demetriou C, et al. Among authors: thomas ac. PLoS One. 2014 Jan 15;9(1):e85454. doi: 10.1371/journal.pone.0085454. eCollection 2014. PLoS One. 2014. PMID: 24454871 Free PMC article.
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE. Kinsler VA, et al. Among authors: thomas ac. J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7. J Invest Dermatol. 2013. PMID: 23392294 Free PMC article.
Erratum to: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.
Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu MM, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B. Mendioroz M, et al. Genome Biol. 2016 Jun 9;17(1):123. doi: 10.1186/s13059-016-0949-5. Genome Biol. 2016. PMID: 27282916 Free PMC article. No abstract available.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: thomas ac. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
322 results