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Integrated clinical and omics approach to rare diseases novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim , Clara Savary , Christèle Dubourg , Wilfrid Carré , Charlotte Mouden et al.
Brain - A Journal of Neurology , 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Journal articles hal-01975696v1
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Retinoic acid receptors exhibit cell-autonomous functions in cranial neural crest cells.

Valérie Dupé , Isabelle Pellerin
Developmental Dynamics, 2009, 238 (10), pp.2701-11. ⟨10.1002/dvdy.22087⟩
Journal articles inserm-00413491v1
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Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.

Leslie Ratié , Michelle Ware , Frédérique Barloy-Hubler , Hélène Romé , Isabelle Gicquel et al.
Neural Development, 2013, 8, pp.25. ⟨10.1186/1749-8104-8-25⟩
Journal articles hal-00945669v1
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Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis.

Nicolas Matt , Norbert B Ghyselinck , Isabelle Pellerin , Valérie Dupé
Developmental Biology, 2008, 320 (1), pp.140-8. ⟨10.1016/j.ydbio.2008.04.039⟩
Journal articles hal-00298568v1
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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Sandra Mercier , Véronique David , Leslie Ratié , Isabelle Gicquel , Sylvie Odent et al.
Disease Models & Mechanisms, 2013, 6 (2), pp.537-43. ⟨10.1242/dmm.010132⟩
Journal articles inserm-00824979v1