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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga 2015
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A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes De Cegli, Rossella; Romito, Antonio; Iacobacci, Simona; Mao, Lei; ... Cobellis, G. 2010
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ARF1 regulates Nef-induced CD4 degradation Faure, Julien; Stalder Monney, Romaine; Borel, Christelle; Sobo, Komla; ... Trono, Didier 2004
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications Coppola, Antonietta; Romito, Antonio; Borel, Christelle; Gehrig, Corinne; ... Cobellis, Gilda 2013
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Common regulatory variation impacts gene expression in a cell type-dependent manner Dimas, Antigone S.; Deutsch, Samuel; Stranger, Barbara E.; Montgomery, Stephen; ... Antonarakis, Stylianos 2009
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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge 2018
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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos 2005
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DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins Sailani, Mohammad Reza; Santoni, Federico; Letourneau, Audrey; Borel, Christelle; ... Antonarakis, Stylianos 2015
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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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DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome Canzonetta, Claudia; Mulligan, Claire; Deutsch, Samuel; Ruf, Sandra; ... Nizetic, Dean 2008
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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction Borel, Christelle; Cheung, Fanny; Stewart, Helen; Koolen, David A; ... Sharp, Andrew J 2012
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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled Attar Cohen, Homa; Bedard, Karen; Migliavacca Voeffray, Eugenia Linda; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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Functional genetic variation of human miRNAs and phenotypic consequences Borel, Christelle; Antonarakis, Stylianos 2008
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos 2013
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Genetic structure of Europeans: a view from the North-East Nelis, Mari; Esko, Tonu; Antonarakis, Stylianos; Borel, Christelle; Gagnebin, Maryline 2009
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Germ cell-specific targeting of DICER or DGCR8 reveals a novel role for endo-siRNAs in the progression of mammalian spermatogenesis and male fertility Zimmermann, Céline; Romero, Yannick; Warnefors, Maria; Bilican, Adem; ... Nef, Serge 2014
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HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes Piguet, Vincent; Wan, L; Borel, Christelle; Mangasarian, Aram; ... Trono, Didier 2000
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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells Letourneau, Audrey; Cobellis, Gilda; Fort, Alexandre; Santoni, Federico; ... Antonarakis, Stylianos 2015
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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, Praveen; Borel, Christelle; Gagnebin, Maryline; Grant, G. R.; ... Antonarakis, Stylianos 2007
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