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Domains of genome-wide gene expression dysregulation in Down's syndrome Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos 2014
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BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients Tlili, Asma; Hoischen, Alexander; Ripoll, Clémentine; Benabou, Eva; ... Janel, Nathalie 2012
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Transcriptional profiling of type 1 diabetes genes on chromosome 21 in a rat beta-cell line and human pancreatic islets Bergholdt, R; Karlsen, A E; Hagedorn, P H; Aalund, M; ... Pociot, F 2007
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The challenge of Down syndrome Antonarakis, Stylianos; Epstein, C. J. 2006
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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development Menzel, Olivier; Vellai, Tibor; Takacs-Vellai, Krisztina; Reymond, Alexandre; ... Guipponi, Michel 2004
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon Guipponi, Michel; Scott, Hamish Steele; Chen, H.; Schebesta, A.; ... Antonarakis, Stylianos 1998
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[Alzheimer's disease and genetic factors] Leuba, G; Savioz, Armand 1997