Antonarakis SE - Search Results

1

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Sailani MR, et al. Among authors: antonarakis se. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 Free PMC article.

2

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.

Antonarakis SE, Lyle R, Deutsch S, Reymond A. Antonarakis SE, et al. Int J Dev Biol. 2002 Jan;46(1):89-96. Int J Dev Biol. 2002. PMID: 11902692 Review.

3

Nineteen additional unpredicted transcripts from human chromosome 21.

Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE. Reymond A, et al. Among authors: antonarakis se. Genomics. 2002 Jun;79(6):824-32. doi: 10.1006/geno.2002.6781. Genomics. 2002. PMID: 12036297

4

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

5

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P. Deutsch S, et al. Among authors: antonarakis se. Blood. 2003 Jul 15;102(2):529-34. doi: 10.1182/blood-2002-09-2783. Epub 2003 Mar 20. Blood. 2003. PMID: 12649151 Free article.

6

Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.

Gold G, Blouin JL, Herrmann FR, Michon A, Mulligan R, Duriaux Saïl G, Bouras C, Giannakopoulos P, Antonarakis SE. Gold G, et al. Among authors: antonarakis se. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):44-7. doi: 10.1002/ajmg.b.10010. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707937

7

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: antonarakis se. Hum Mutat. 2004 Jan;23(1):77-84. doi: 10.1002/humu.10284. Hum Mutat. 2004. PMID: 14695535

8

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.

9

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.

10

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

Merla G, Howald C, Antonarakis SE, Reymond A. Merla G, et al. Among authors: antonarakis se. Hum Mol Genet. 2004 Jul 15;13(14):1505-14. doi: 10.1093/hmg/ddh163. Epub 2004 May 26. Hum Mol Genet. 2004. PMID: 15163635

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