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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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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean 2015
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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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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis 2014
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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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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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 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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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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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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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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The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma Gimelli, Stefania; Beri, Silvana; Drabkin, Harry A.; Gambini, Claudio; ... Gimelli, Giorgio 2009
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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