Antonarakis SE - Search Results

1

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, Mostafavi M, Pippucci T, Ranza-Boscardin E, Reversade B, Sharif SM, Teeuw ME, Bittles AH. Hamamy H, et al. Among authors: antonarakis se. Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f. Genet Med. 2011. PMID: 21555946 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. Among authors: antonarakis se. Nature. 2002 Dec 5;420(6915):578-82. doi: 10.1038/nature01251. Nature. 2002. PMID: 12466853

3

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Fokstuen S, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: antonarakis se. Am J Med Genet A. 2003 Mar 1;117A(2):143-6. doi: 10.1002/ajmg.a.10024. Am J Med Genet A. 2003. PMID: 12567411

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

No association between DUP25 and anxiety disorders.

Henrichsen CN, Delorme R, Boucherie M, Marelli D, Baud P, Bellivier F, Courtet P, Chabane N, Henry C, Leboyer M, Malafosse A, Antonarakis SE, Dahoun S. Henrichsen CN, et al. Among authors: antonarakis se. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):80-3. doi: 10.1002/ajmg.b.30037. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15211637

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

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.

Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE. Deutsch S, et al. Among authors: antonarakis se. Hum Mol Genet. 2005 Dec 1;14(23):3741-9. doi: 10.1093/hmg/ddi404. Epub 2005 Oct 26. Hum Mol Genet. 2005. PMID: 16251198

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