Phosphorylated C/EBPβ Influences a Complex Network Involving YY1 and USF2 in Lung Epithelial Cells

Por Viart, Victoria, Varilh, Jessica, Lopez, Estelle, René, Céline, Claustres, Mireille, Taulan-Cadars, Magali
Publicado em 2013

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

Por Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline
Publicado no Mol Genet Genomic Med (2020)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Por Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.
Publicado no PLoS Biol (2016)

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Por Thauvin-Robinet, Christel, Lee, Jaclyn S., Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla A.M., St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M., Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V.
Publicado em 2014

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Por Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, Faivre, Laurence
Publicado em 2012

15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Por Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R., Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J., Herranz-Pérez, Vicente, Lee, Jaclyn S., Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R., Wallingford, John B., Blacque, Oliver E., Nachury, Maxence V., Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado no J Med Genet (2017)