Dermitzakis ET - Search Results

1

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

Stévant I, Neirijnck Y, Borel C, Escoffier J, Smith LB, Antonarakis SE, Dermitzakis ET, Nef S. Stévant I, et al. Among authors: dermitzakis et. Cell Rep. 2018 Feb 6;22(6):1589-1599. doi: 10.1016/j.celrep.2018.01.043. Cell Rep. 2018. PMID: 29425512 Free 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. 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: dermitzakis et. 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. 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: dermitzakis et. 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. 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

Chromosome 21 and Down syndrome: the post-sequence era.

Antonarakis SE, Reymond A, Lyle R, Deutsch S, Dermitzakis ET. Antonarakis SE, et al. Among authors: dermitzakis et. Cold Spring Harb Symp Quant Biol. 2003;68:425-30. doi: 10.1101/sqb.2003.68.425. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338645 No abstract available.

8

Chromosome 21 and down syndrome: from genomics to pathophysiology.

Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Antonarakis SE, et al. Among authors: dermitzakis et. 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. 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: dermitzakis et. 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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