Antonarakis SE - Search Results

1

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.

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

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.

Paoloni-Giacobino A, Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P. Paoloni-Giacobino A, et al. Among authors: antonarakis se. Hum Genet. 2002 Sep;111(3):284-9. doi: 10.1007/s00439-002-0789-0. Epub 2002 Aug 6. Hum Genet. 2002. PMID: 12215842

5

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

6

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

7

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.

8

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

9

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

10

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.

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