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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: gribnau j. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
X chromosome inactivation is initiated in human preimplantation embryos.
van den Berg IM, Laven JS, Stevens M, Jonkers I, Galjaard RJ, Gribnau J, van Doorninck JH. van den Berg IM, et al. Among authors: gribnau j. Am J Hum Genet. 2009 Jun;84(6):771-9. doi: 10.1016/j.ajhg.2009.05.003. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481196 Free PMC article.
X-changing information on X inactivation.
Barakat TS, Jonkers I, Monkhorst K, Gribnau J. Barakat TS, et al. Among authors: gribnau j. Exp Cell Res. 2010 Mar 10;316(5):679-87. doi: 10.1016/j.yexcr.2010.01.015. Epub 2010 Jan 18. Exp Cell Res. 2010. PMID: 20083102 Review.
X chromosome inactivation and embryonic stem cells.
Barakat TS, Gribnau J. Barakat TS, et al. Among authors: gribnau j. Adv Exp Med Biol. 2010;695:132-54. doi: 10.1007/978-1-4419-7037-4_10. Adv Exp Med Biol. 2010. PMID: 21222204
RNF12 activates Xist and is essential for X chromosome inactivation.
Barakat TS, Gunhanlar N, Pardo CG, Achame EM, Ghazvini M, Boers R, Kenter A, Rentmeester E, Grootegoed JA, Gribnau J. Barakat TS, et al. Among authors: gribnau j. PLoS Genet. 2011 Jan 27;7(1):e1002001. doi: 10.1371/journal.pgen.1002001. PLoS Genet. 2011. PMID: 21298085 Free PMC article.
Xist regulation and function explored.
Pontier DB, Gribnau J. Pontier DB, et al. Among authors: gribnau j. Hum Genet. 2011 Aug;130(2):223-36. doi: 10.1007/s00439-011-1008-7. Epub 2011 May 28. Hum Genet. 2011. PMID: 21626138 Free PMC article. Review.
Precise BAC targeting of genetically polymorphic mouse ES cells.
Barakat TS, Rentmeester E, Sleutels F, Grootegoed JA, Gribnau J. Barakat TS, et al. Among authors: gribnau j. Nucleic Acids Res. 2011 Oct;39(18):e121. doi: 10.1093/nar/gkr550. Epub 2011 Jul 7. Nucleic Acids Res. 2011. PMID: 21737430 Free PMC article.
120 results