MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome von Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

Volltext

Local retinoic acid signaling directs emergence of the extraocular muscle functional unit von Comai, Glenda Evangelina, Tesařová, Markéta, Dupé, Valérie, Rhinn, Muriel, Vallecillo-García, Pedro, da Silva, Fabio, Feret, Betty, Exelby, Katherine, Dollé, Pascal, Carlsson, Leif, Pryce, Brian, Spitz, François, Stricker, Sigmar, Zikmund, Tomáš, Kaiser, Jozef, Briscoe, James, Schedl, Andreas, Ghyselinck, Norbert B, Schweitzer, Ronen, Tajbakhsh, Shahragim

Volltext

Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells von Matt, Nicolas, Dupé, Valérie, Garnier, Jean-Marie, Dennefeld, Christine, Chambon, Pierre, Mark, Manuel, Ghyselinck, Norbert B.

Volltext

Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain von Ware, Michelle, Dupé, Valérie, Schubert, Frank R.

Volltext

In vivo functional analysis of the Hoxa-1 3' retinoic acid response element (3'RARE) von Dupé, V, Davenne, M, Brocard, J, Dollé, P, Mark, M, Dierich, A, Chambon, P, Rijli, F M

Volltext

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein von Kim, Artem, Le Douce, Jérôme, Diab, Farah, Ferovova, Monika, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie, David, Véronique, Diambra, Luis, Watrin, Erwan, de Tayrac, Marie

Volltext

Retinoic acid receptors exhibit cell‐autonomous functions in cranial neural crest cells von Dupé, Valérie, Pellerin, Isabelle

Volltext

A Newborn Lethal Defect Due to Inactivation of Retinaldehyde Dehydrogenase Type 3 Is Prevented by Maternal Retinoic Acid Treatment von Dupé, Valérie, Matt, Nicolas, Garnier, Jean-Marie, Chambon, Pierre, Mark, Manuel, Ghyselinck, Norbert B.

Volltext

Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis von Matt, Nicolas, Ghyselinck, Norbert B., Pellerin, Isabelle, Dupé, Valérie

Volltext

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings von Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique

Volltext

Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency von Hamdi-Rozé, Houda, Ware, Michelle, Guyodo, Hélène, Rizzo, Aurélie, Ratié, Leslie, Rupin, Maïlys, Carré, Wilfrid, Kim, Artem, Odent, Sylvie, Dubourg, Christèle, David, Véronique, de Tayrac, Marie, Dupé, Valérie

Volltext

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth von Guyodo, Hélène, Rizzo, Aurélie, Diab, Farah, Noury, Fanny, Mironov, Svetlana, de Tayrac, Marie, David, Véronique, Odent, Sylvie, Dubourg, Christèle, Dupé, Valérie

Volltext

Temporally controlled targeted somatic mutagenesis in embryonic surface ectoderm and fetal epidermal keratinocytes unveils two distinct developmental functions of BRG1 in limb morp... von Indra, Arup Kumar, Dupé, Valérie, Bornert, Jean-Marc, Messaddeq, Nadia, Yaniv, Moshe, Mark, Manuel, Chambon, Pierre, Metzger, Daniel

Volltext

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders von Beaumont, Marie, Akloul, Linda, Carré, Wilfrid, Quélin, Chloé, Journel, Hubert, Pasquier, Laurent, Fradin, Mélanie, Odent, Sylvie, Hamdi-Rozé, Houda, Watrin, Erwan, Dupé, Valérie, Dubourg, Christèle, David, Véronique

Volltext

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos von Mercier, Sandra, David, Véronique, Ratié, Leslie, Gicquel, Isabelle, Odent, Sylvie, Dupé, Valérie

Volltext

Impaired Locomotion and Dopamine Signaling in Retinoid Receptor Mutant Mice von Krȩżel, Wojciech, Ghyselinck, Norbert, Samad, Tarek A., Dupé, Valérie, Kastner, Philippe, Borrelli, Emiliana, Chambon, Pierre

Volltext

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos... von Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale

Volltext

Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation von Niculescu, Cristina, Ganguli-Indra, Gitali, Pfister, Véronique, Dupé, Valérie, Messaddeq, Nadia, De Arcangelis, Adèle, Georges-Labouesse, Elisabeth

Volltext

Building the muscle pattern: Role of Retinoic acid signaling in extraocular muscle morphogenesis von Comai, Glenda, Robert-Moreno, Alexandre, Dupé, Valerie, Rhinn, Muriel, Ghyselinck, Norbert, Sharpe, James, Tajbakhsh, Shahragim

Volltext

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain von Ware, Michelle, Hamdi-Rozé, Houda, Le Friec, Julien, David, Véronique, Dupé, Valérie

Volltext