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Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Borel C, Deutsch S, Letourneau A, Migliavacca E, Montgomery SB, Dimas AS, Vejnar CE, Attar H, Gagnebin M, Gehrig C, Falconnet E, Dupré Y, Dermitzakis ET, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Genome Res. 2011 Jan;21(1):68-73. doi: 10.1101/gr.109371.110. Epub 2010 Dec 8. Genome Res. 2011. PMID: 21147911 Free PMC article.
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
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Bartoloni L, et al. Among authors: antonarakis se. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. doi: 10.1073/pnas.152337699. Epub 2002 Jul 25. Proc Natl Acad Sci U S A. 2002. PMID: 12142464 Free PMC article.
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
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.
661 results