Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emilie Mugniery"'
Autor:
Caroline Marty, Catherine Benoist-Lasselin, Romain Dacquin, Marie-Christine de Vernejoul, Pierre Jurdic, Emilie Mugniery, Laurence Legeai-Mallet, Valérie Geoffroy, Arnold Munnich
Publikováno v:
Human Molecular Genetics. 21:2503-2513
The fibroblast growth factor receptor 3 (FGFR3) plays a critical role in the regulation of endochondral ossification. Fgfr3 gain-of-function mutations cause achondroplasia, the most common form of dwarfism, and a spectrum of chondrodysplasias. Despit
Autor:
Martin Biosse Duplan, Arnold Munnich, Catherine Benoist-Lasselin, Yann Heuzé, Davide Komla-Ebri, Emilie Mugniery, Federico Di Rocco, Laurence Legeai-Mallet, Nabil Kaci
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2014, 23 (11), pp.2914-2925. ⟨10.1093/hmg/ddu004⟩
Human Molecular Genetics, 2014, 23 (11), pp.2914-2925. ⟨10.1093/hmg/ddu004⟩
Human Molecular Genetics, Oxford University Press (OUP), 2014, 23 (11), pp.2914-2925. ⟨10.1093/hmg/ddu004⟩
Human Molecular Genetics, 2014, 23 (11), pp.2914-2925. ⟨10.1093/hmg/ddu004⟩
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mut
Autor:
Aurélie Heuzé, Jean-Michel Hermel, Françoise Jamen, Gaëlle Recher, Philippe Herbomel, Thierry Savy, Nadine Peyriéras, Julia Jouralet, Emilie Mugniery, Sophie Desnoulez, Jean-Stéphane Joly, Franck Bourrat, Alessandro Brombin
Publikováno v:
Development (Cambridge, England)
Development (Cambridge, England), Company of Biologists, 2013, 140 (24), pp.4860-9. ⟨10.1242/dev.099010⟩
Development-Journal of embryology and experimental morphology
Development-Journal of embryology and experimental morphology, Company of Biologists, 2013, 140 (24), pp.4860-9. <10.1242/dev.099010>
Development (Cambridge, England), 2013, 140 (24), pp.4860-9. ⟨10.1242/dev.099010⟩
Development (Cambridge, England), Company of Biologists, 2013, 140 (24), pp.4860-9. ⟨10.1242/dev.099010⟩
Development-Journal of embryology and experimental morphology
Development-Journal of embryology and experimental morphology, Company of Biologists, 2013, 140 (24), pp.4860-9. <10.1242/dev.099010>
Development (Cambridge, England), 2013, 140 (24), pp.4860-9. ⟨10.1242/dev.099010⟩
International audience; Investigating neural stem cell (NSC) behaviour in vivo, which is a major area of research, requires NSC models to be developed. We carried out a multilevel characterisation of the zebrafish embryo peripheral midbrain layer (PM
Autor:
Catherine Benoist-Lasselin, Anne-Lise Girard, Arnold Munnich, Patricia Busca, Laurent Schibler, Emilie Mugniery, Laurence Legeai-Mallet, Laurent Le Corre, Yves Le Merrer, Nabil Kaci, Aurélie Jonquoy, Florent Barbault
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (4), pp.841-851. ⟨10.1093/hmg/ddr514⟩
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (4), pp.841-851. 〈10.1093/hmg/ddr514〉
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (4), pp.841-851. ⟨10.1093/hmg/ddr514⟩
Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (4), pp.841-851. 〈10.1093/hmg/ddr514〉
Chantier qualité GA; Activating germline fibroblast growth factor receptor 3 (FGFR3) mutations cause achondroplasia (ACH), the most common form of human dwarfism and a spectrum of skeletal dysplasias. FGFR3 is a tyrosine kinase receptor and constitu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20778759d072de511cc1a30bed8f304f
https://hal.archives-ouvertes.fr/hal-01019795
https://hal.archives-ouvertes.fr/hal-01019795
Autor:
Daniel Stephen, Gabriela O. Bodea, Soline Chanet, Anna Kabanova, Alexandra L. Joyner, Sandra Blaess, Amin Derouiche, Emilie Mugniery
Publikováno v:
Neural Development
Neural Development, 2011, 6 (1), pp.29. ⟨10.1186/1749-8104-6-29⟩
Neural Development, BioMed Central, 2011, 6 (1), pp.29. ⟨10.1186/1749-8104-6-29⟩
Neural Development, BioMed Central, 2011, 6 (1), pp.29. 〈10.1186/1749-8104-6-29〉
Neural Development, Vol 6, Iss 1, p 29 (2011)
Neural Development, 2011, 6 (1), pp.29. ⟨10.1186/1749-8104-6-29⟩
Neural Development, BioMed Central, 2011, 6 (1), pp.29. ⟨10.1186/1749-8104-6-29⟩
Neural Development, BioMed Central, 2011, 6 (1), pp.29. 〈10.1186/1749-8104-6-29〉
Neural Development, Vol 6, Iss 1, p 29 (2011)
Background The ventral midbrain contains a diverse array of neurons, including dopaminergic neurons of the ventral tegmental area (VTA) and substantia nigra (SN) and neurons of the red nucleus (RN). Dopaminergic and RN neurons have been shown to aris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccac72eb75018cb285b420cfb7a760a
https://www.hal.inserm.fr/inserm-00608536/document
https://www.hal.inserm.fr/inserm-00608536/document
Autor:
Yves Le Merrer, François Radvanyi, Aurélie Jonquoy, Catherine Benoist-Lasselin, Laurent Le Corre, Emilie Mugniery, Anne-Lise Girard, Patricia Busca, Laurence Legeai-Mallet, Johannes Aubertin
Publikováno v:
Organicbiomolecular chemistry. 8(9)
A library of pyrido[2,3-d]pyrimidines was designed as inhibitors of FGFR3 tyrosine kinase allowing possible interactions with an unexploited region of the ATP binding-site. This library was built-up with an efficient step of click-chemistry giving ea
Autor:
Jean-Philippe Jais, Laurence Legeai-Mallet, Emilie Mugniery, Catherine Benoist-Lasselin, Aurélie Jonquoy, T. Odent, Stéphanie Pannier, Arnold Munnich
Publikováno v:
Bone. 47(5)
Achondroplasia (ACH), the most common form of human dwarfism is caused by a mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, resulting in constitutive activation of the receptor. Typical radiological features include shortening of th
Autor:
Emilie Mugniery, F. Di Rocco, Nabil Kaci, Laurence Legeai-Mallet, Arnold Munnich, Catherine Benoist-Lasselin
Publikováno v:
Bone. 50:S60
Autor:
Catherine Benoist-Lasselin, Laurence Legeai-Mallet, Nabil Kaci, F. Di Rocco, Arnold Munnich, N. Litim, Emilie Mugniery
Publikováno v:
Neurochirurgie. 57:263
Autor:
Catherine Benoist-Lasselin, Romain Dacquin, Laurence Legeai-Mallet, Arnold Munnich, Pierre Jurdic, Caroline Marty, Valérie Geoffroy, Emilie Mugniery, M.C. de Vernejoul
Publikováno v:
Bone. 48:S67