| | Title | Authors / Editors | Date |
|
unige:78097 |
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 |
|
unige:34667 |
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 |
|
unige:8637 |
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats |
Bena, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; ... Sharp, A. J. |
2010 |
|
unige:21111 |
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 |
|
unige:9200 |
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 |
|
unige:40588 |
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 |
|
unige:20966 |
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 |
|
unige:77369 |
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 |
|
unige:26257 |
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 |
|
unige:8855 |
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 |
|
unige:21106 |
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 |
|
unige:42302 |
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 |
|
unige:88998 |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos |
2016 |
|
unige:100218 |
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 |
|
unige:34656 |
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 |
|
unige:20742 |
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 |
|
unige:34274 |
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 |
|
unige:34630 |
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 |
|
unige:123733 |
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother |
Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane |
2018 |
|
unige:139078 |
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice |
Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar |
2020 |
Gimelli, Stefania
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