Antonarakis SE - Search Results

1

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome.

Nica AC, Ongen H, Irminger JC, Bosco D, Berney T, Antonarakis SE, Halban PA, Dermitzakis ET. Nica AC, et al. Among authors: antonarakis se. Genome Res. 2013 Sep;23(9):1554-62. doi: 10.1101/gr.150706.112. Epub 2013 May 28. Genome Res. 2013. PMID: 23716500 Free PMC article.

2

Numerous potentially functional but non-genic conserved sequences on human chromosome 21.

Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C, Deutsch S, Stevenson BJ, Flegel V, Bucher P, Jongeneel CV, Antonarakis SE. Dermitzakis ET, et al. Among authors: antonarakis se. Nature. 2002 Dec 5;420(6915):578-82. doi: 10.1038/nature01251. Nature. 2002. PMID: 12466853

3

Human chromosome 21 gene expression atlas in the mouse.

Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Reymond A, et al. Among authors: antonarakis se. Nature. 2002 Dec 5;420(6915):582-6. doi: 10.1038/nature01178. Nature. 2002. PMID: 12466854

4

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

Dermitzakis ET, Reymond A, Scamuffa N, Ucla C, Kirkness E, Rossier C, Antonarakis SE. Dermitzakis ET, et al. Among authors: antonarakis se. Science. 2003 Nov 7;302(5647):1033-5. doi: 10.1126/science.1087047. Epub 2003 Oct 2. Science. 2003. PMID: 14526086

5

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

Ferrari SL, Deutsch S, Choudhury U, Chevalley T, Bonjour JP, Dermitzakis ET, Rizzoli R, Antonarakis SE. Ferrari SL, et al. Among authors: antonarakis se. Am J Hum Genet. 2004 May;74(5):866-75. doi: 10.1086/420771. Epub 2004 Apr 7. Am J Hum Genet. 2004. PMID: 15077203 Free PMC article.

6

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.

Dermitzakis ET, Kirkness E, Schwarz S, Birney E, Reymond A, Antonarakis SE. Dermitzakis ET, et al. Among authors: antonarakis se. Genome Res. 2004 May;14(5):852-9. doi: 10.1101/gr.1934904. Epub 2004 Apr 12. Genome Res. 2004. PMID: 15078857 Free PMC article.

7

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome.

Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE. Lyle R, et al. Among authors: antonarakis se. Genome Res. 2004 Jul;14(7):1268-74. doi: 10.1101/gr.2090904. Genome Res. 2004. PMID: 15231743 Free PMC article.

8

Chromosome 21 and down syndrome: from genomics to pathophysiology.

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Antonarakis SE, et al. Nat Rev Genet. 2004 Oct;5(10):725-38. doi: 10.1038/nrg1448. Nat Rev Genet. 2004. PMID: 15510164 Review.

9

Conserved non-genic sequences - an unexpected feature of mammalian genomes.

Dermitzakis ET, Reymond A, Antonarakis SE. Dermitzakis ET, et al. Among authors: antonarakis se. Nat Rev Genet. 2005 Feb;6(2):151-7. doi: 10.1038/nrg1527. Nat Rev Genet. 2005. PMID: 15716910 Review.

10

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A. Bonafé L, et al. Among authors: antonarakis se. PLoS Genet. 2005 Oct;1(4):e47. doi: 10.1371/journal.pgen.0010047. PLoS Genet. 2005. PMID: 16244706 Free PMC article.

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