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656 results

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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D. Murray A, et al. Among authors: antonarakis se. Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968. Stem Cells. 2015. PMID: 25694335 Free PMC article.
The challenge of Down syndrome.
Antonarakis SE, Epstein CJ. Antonarakis SE, et al. Trends Mol Med. 2006 Oct;12(10):473-9. doi: 10.1016/j.molmed.2006.08.005. Epub 2006 Aug 28. Trends Mol Med. 2006. PMID: 16935027 Review.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Prandini P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):252-63. doi: 10.1086/519248. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668376 Free PMC article.
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D. Canzonetta C, et al. Among authors: antonarakis se. Am J Hum Genet. 2008 Sep;83(3):388-400. doi: 10.1016/j.ajhg.2008.08.012. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771760 Free PMC article.
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. Béna F, et al. Among authors: antonarakis se. Hum Mol Genet. 2010 May 15;19(10):1967-73. doi: 10.1093/hmg/ddq075. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179077
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Sharp AJ, et al. Among authors: antonarakis se. Genome Res. 2010 Sep;20(9):1271-8. doi: 10.1101/gr.108597.110. Epub 2010 Jul 14. Genome Res. 2010. PMID: 20631049 Free PMC article.
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Borel C, Deutsch S, Letourneau A, Migliavacca E, Montgomery SB, Dimas AS, Vejnar CE, Attar H, Gagnebin M, Gehrig C, Falconnet E, Dupré Y, Dermitzakis ET, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Genome Res. 2011 Jan;21(1):68-73. doi: 10.1101/gr.109371.110. Epub 2010 Dec 8. Genome Res. 2011. PMID: 21147911 Free PMC article.
DNA methylation profiles of human active and inactive X chromosomes.
Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE. Sharp AJ, et al. Among authors: antonarakis se. Genome Res. 2011 Oct;21(10):1592-600. doi: 10.1101/gr.112680.110. Epub 2011 Aug 23. Genome Res. 2011. PMID: 21862626 Free PMC article.
656 results