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 TitleAuthors / EditorsDate
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Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease Lazarczyk, Maciej J; Haller, Sven; Savioz, Armand; Gimelli, Stefania; ... Giannakopoulos, Panteleimon 2017
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Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential Martinez, Yannick; Bena, Frédérique; Gimelli, Stefania; Tirefort, Diderik; ... Preynat-Seauve, Olivier 2012
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Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells Sappino, André-Pascal; Buser Llinares, Raphaële; Lesne, Laurence; Gimelli, Stefania; ... Mandriota, Stefano Jacopo 2012
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Developmental expression and organisation of fibrinogen genes in the zebrafish Fish, Richard; Vorjohann, Silja; Bena, Frédérique; Fort, Alexandre; Neerman Arbez, Marguerite 2012
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A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis Klee, Philippe; Bena, Frédérique; Birraux, Jacques Maurice; Dahoun, Sophie; ... Schwitzgebel Luscher, Valérie 2012
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A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats Bena, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; ... Sharp, A. J. 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Bricco, Lara; ... Gimelli, Giorgio 2010
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Ataxia telangiectasia mutated (ATM) inhibition transforms human mammary gland epithelial cells Mandriota, Stefano Jacopo; Buser, Raphaele; Lesne, Laurence; Stouder, Christelle; ... Sappino, Pascal 2010
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A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes Hovatta, Outi; Jaconi, Marisa; Tohonen, Virpi; Bena, Frédérique; ... Feki, Anis 2010
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Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations Ansermet, François; Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Giacobino, Ariane 2010
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Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane 2009
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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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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 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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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007