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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: stanier p. 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.
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E. Kinsler VA, et al. Among authors: stanier p. J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10. J Invest Dermatol. 2012. PMID: 22572819 Free PMC article.
The speech gene FOXP2 is not imprinted.
Thomas AC, Frost JM, Ishida M, Vargha-Khadem F, Moore GE, Stanier P. Thomas AC, et al. Among authors: stanier p. 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.
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: stanier p. 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.
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P. Seselgyte R, et al. Among authors: stanier p. J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27. J Dent Res. 2019. PMID: 30917284 Free PMC article.
Maternal uniparental disomy 7 in Silver-Russell syndrome.
Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE. Preece MA, et al. Among authors: stanier p. J Med Genet. 1997 Jan;34(1):6-9. doi: 10.1136/jmg.34.1.6. J Med Genet. 1997. PMID: 9032641 Free PMC article.
169 results