Recent advances in understanding inheritance of holoprosencephaly
Dubourg, Christèle, Kim, Artem, Watrin, Erwan, de Tayrac, Marie, Odent, Sylvie, David, Véronique, Dupé, Valérie
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2018)
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Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein
Kim, Artem, Le Douce, Jérôme, Diab, Farah, Ferovova, Monika, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie, David, Véronique, Diambra, Luis, Watrin, Erwan, de Tayrac, Marie
Published in Brain (London, England : 1878) (01.07.2020)
Published in Brain (London, England : 1878) (01.07.2020)
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Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency
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
Published in The journal of clinical endocrinology and metabolism (01.09.2020)
Published in The journal of clinical endocrinology and metabolism (01.09.2020)
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A Newborn Lethal Defect Due to Inactivation of Retinaldehyde Dehydrogenase Type 3 Is Prevented by Maternal Retinoic Acid Treatment
Dupé, Valérie, Matt, Nicolas, Garnier, Jean-Marie, Chambon, Pierre, Mark, Manuel, Ghyselinck, Norbert B.
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
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Journal Article
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings
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
Published in PloS one (06.02.2015)
Published in PloS one (06.02.2015)
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Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth
Guyodo, Hélène, Rizzo, Aurélie, Diab, Farah, Noury, Fanny, Mironov, Svetlana, de Tayrac, Marie, David, Véronique, Odent, Sylvie, Dubourg, Christèle, Dupé, Valérie
Published in Clinical and experimental dental research (01.04.2024)
Published in Clinical and experimental dental research (01.04.2024)
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Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
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
Published in Human genetics (01.04.2019)
Published in Human genetics (01.04.2019)
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Temporally controlled targeted somatic mutagenesis in embryonic surface ectoderm and fetal epidermal keratinocytes unveils two distinct developmental functions of BRG1 in limb morphogenesis and skin barrier formation
Indra, Arup Kumar, Dupé, Valérie, Bornert, Jean-Marc, Messaddeq, Nadia, Yaniv, Moshe, Mark, Manuel, Chambon, Pierre, Metzger, Daniel
Published in Development (Cambridge) (01.10.2005)
Published in Development (Cambridge) (01.10.2005)
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Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation
Niculescu, Cristina, Ganguli-Indra, Gitali, Pfister, Véronique, Dupé, Valérie, Messaddeq, Nadia, De Arcangelis, Adèle, Georges-Labouesse, Elisabeth
Published in European journal of cell biology (01.02.2011)
Published in European journal of cell biology (01.02.2011)
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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
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
Published in Acta neuropathologica communications (19.10.2018)
Published in Acta neuropathologica communications (19.10.2018)
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Impaired Locomotion and Dopamine Signaling in Retinoid Receptor Mutant Mice
Krȩżel, Wojciech, Ghyselinck, Norbert, Samad, Tarek A., Dupé, Valérie, Kastner, Philippe, Borrelli, Emiliana, Chambon, Pierre
Published in Science (American Association for the Advancement of Science) (06.02.1998)
Published in Science (American Association for the Advancement of Science) (06.02.1998)
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Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development
Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
Published in Neural development (23.12.2013)
Published in Neural development (23.12.2013)
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