Reshuffling genomic landscapes to study the regulatory evolution of Hox gene clusters

由 Tschopp, Patrick, Fraudeau, Nadine, Béna, Frédérique, Duboule, Denis
出版 2011

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease

由 Lazarczyk, Maciej J., Haller, Sven, Gimelli, Stefania, Bena, Frédérique, Giannakopoulos, Panteleimon
發表在 Alzheimer Dis Assoc Disord (2016)

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

由 Tekendo-Ngongang, Cedrik, Dahoun, Sophie, Nguefack, Seraphin, Gimelli, Stefania, Sloan-Béna, Frédérique, Wonkam, Ambroise
發表在 Mol Syndromol (2014)

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

由 Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-Béna, Frédérique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, Valérie, Maechler, Pierre
發表在 Hum Genomics (2020)

Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

由 Luczkowska, Karolina, Stekelenburg, Caroline, Sloan-Béna, Frédérique, Ranza, Emmanuelle, Gastaldi, Giacomo, Schwitzgebel, Valérie, Maechler, Pierre
發表在 Hum Genomics (2021)

Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential

由 Martinez, Yannick, Béna, Frédérique, Gimelli, Stefania, Tirefort, Diderik, Dubois-Dauphin, Michel, Krause, Karl-Heinz, Preynat-Seauve, Olivier
出版 2012

MECP2 Duplication Syndrome in a Patient from Cameroon

由 Tekendo-Ngongang, Cedrik, Dahoun, Sophie, Nguefack, Séraphin, Moix, Isabelle, Zambo, Huguette, Morris, Michael. A, Béna, Frédérique, Wonkam, Ambroise
發表在 Am J Med Genet A (2020)

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the <it>CHL1 </it>gene, from a normal father to his two affected children

由 Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
出版 2011-04-01

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes

由 Raftopoulou, Christina, Roumelioti, Fani-Marlen, Dragona, Eleni, Gimelli, Stefanie, Sloan-Béna, Frédérique, Gorgoulis, Vasilis, Antonarakis, Stylianos E., Gagos, Sarantis
發表在 Cancers (Basel) (2020)

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

由 Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio
出版 2011

Down Syndrome: Parental Origin, Recombination, and Maternal Age

由 Vraneković, Jadranka, Božović, Ivana Babić, Grubić, Zorana, Wagner, Jasenka, Pavlinić, Dinko, Dahoun, Sophie, Bena, Frédérique, Čulić, Vida, Brajenović-Milić, Bojana
出版 2012

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

由 Belhedi, Nejla, Bena, Frédérique, Mrabet, Amel, Guipponi, Michel, Souissi, Chiraz Bouchlaka, Mrabet, Hela Khiari, Elgaaied, Amel Benammar, Malafosse, Alain, Salzmann, Annick
出版 2013

Ataxia Telangiectasia Mutated (ATM) Inhibition Transforms Human Mammary Gland Epithelial Cells

由 Mandriota, Stefano J., Buser, Raphaële, Lesne, Laurence, Stouder, Christelle, Favaudon, Vincent, Maechler, Pierre, Béna, Frédérique, Clément, Virginie, Rüegg, Curzio, Montesano, Roberto, Sappino, André-Pascal
出版 2010

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring

由 Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
出版 2013

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

由 Tassano, Elisa, Buttgereit, Jens, Bader, Michael, Lerone, Margherita, Divizia, Maria Teresa, Bocciardi, Renata, Napoli, Flavia, Pala, Giovanna, Sloan-Béna, Frédérique, Gimelli, Stefania, Gimelli, Giorgio
出版 2013

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

由 Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.
發表在 Nat Commun (2019)

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

由 Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella
發表在 Orphanet J Rare Dis (2019)

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

由 Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Sailani, M Reza, Dahoun, Sophie, Santoni, Federico A, Gimelli, Stefania, Guipponi, Michel, Pelte, Marie Françoise, Béna, Frédérique, Antonarakis, Stylianos E, Feki, Anis
出版 2014

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

由 Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
出版 2009

Decreased neural precursor cell pool in NADPH oxidase 2-deficiency: From mouse brain to neural differentiation of patient derived iPSC

由 Nayernia, Zeynab, Colaianna, Marilena, Robledinos-Antón, Natalia, Gutzwiller, Eveline, Sloan-Béna, Frédérique, Stathaki, Elisavet, Hibaoui, Yousef, Cuadrado, Antonio, Hescheler, Jürgen, Stasia, Marie-José, Saric, Tomo, Jaquet, Vincent, Krause, Karl-Heinz
發表在 Redox Biol (2017)