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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: antonarakis se. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Prandini P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):252-63. doi: 10.1086/519248. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668376 Free PMC article.
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE. Sethupathy P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):405-13. doi: 10.1086/519979. Epub 2007 Jul 12. Am J Hum Genet. 2007. PMID: 17668390 Free PMC article.
Mapping of small RNAs in the human ENCODE regions.
Borel C, Gagnebin M, Gehrig C, Kriventseva EV, Zdobnov EM, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Am J Hum Genet. 2008 Apr;82(4):971-81. doi: 10.1016/j.ajhg.2008.02.016. Am J Hum Genet. 2008. PMID: 18394580 Free PMC article.
656 results