Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Christel Thauvin-Robinet"'
Autor:
Sebastien Moutton, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christel Thauvin-Robinet, Philippine Garret, Thibaud Jouan, Martin Chevarin, Benoit Urteaga, Yannis Duffourd, Sophie Nambot, Frédéric Tran-Mau-Them, Arthur Sorlin, François Lecoquierre, Ange-Line Bruel, Christine Coubes
Publikováno v:
Genetics in Medicine. 21:2504-2511
Next-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual disability, autism, and epilepsy. However, a substantial fraction of these predicted pathogenic DNVs remains chal
Autor:
Natacha Lehman, Didier Lacombe, Delphine Héron, Frédérique Debomy, Sylvie Manouvrier, Frédéric Huet, Patrick Edery, Laurence Faivre, Sylvie Odent, Myriam Mikaty, Jennifer Gallard, Sophie Chancenotte, Sandrine Vinault, Maïté Tauber, David Geneviève, Coralie Rastel, Nicole Philip, Christine Binquet, Mathieu Bordes, Alain Verloes, Jamal Ghoumid, Elodie Gautier, Christel Thauvin-Robinet, Emilie Schmitt, Jenny Cornaton, Marie Bournez, Nolwenn Jean, Catherine Lejeune, Delphine Minot, Alice Masurel, Pierre-Henri Roux-Levy
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
International audience; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals a
Autor:
Paul Kuentz, Magali Avila, Jean Baptiste Rivière, Pierre Vabres, Marietta Zinner, Julien Thevenon, Judith St-Onge, David Geneviève, Eveline S. J. M. de Bont, Florian Villegas, Floor A. M. Duijkers, Mieke M. van Haelst, Laurence Duplomb-Jego, Sébastien A. Smallwood, Silvana van Koningsbruggen, Daniel Olivieri, Nada Houcinat, Yannis Duffourd, Thibaud Jouan, Christel Thauvin-Robinet, Koen L.I. van Gassen, Daphné Lehalle, Melanie Rittirsch, Michael B. Stadler, Laurence Faivre, Daniel Hess, Klaske D. Lichtenbelt, Joerg Betschinger, Daniela Mayer
Publikováno v:
Cell Stem Cell
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
International audience; Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased
Autor:
Sandrine Vinault, Christel Thauvin-Robinet, Alice Masurel-Paulet, Fanny Coron, Laurence Faivre, Frédéric Huet, L. Joly, Sandra Mercier, Christine Binquet, Claire Bonithon-Kopp, C. Cassini
Publikováno v:
European Journal of Medical Genetics. 54:277-280
In all countries of the European Union, oral information must be given to the patient. Written information is generally optional, but physicians are tending more and more to send a copy of the clinical report to the patient. In this study, we aimed t
Autor:
Declan Kennedy, Stephen P. Robertson, Cyril Goizet, Frédéric Huet, Elizabeth Thompson, Christel Thauvin-Robinet, Greg Smith, Isabelle Coupry, Laurence Faivre, Alice Masurel-Paulet, Elodie Guerineau, T. Y. Khong, Andrew Tai, Eric Haan, Guilhem Solé
Publikováno v:
European Journal of Medical Genetics. 54:25-28
X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding filamin A ( FLNA ). High phenotypic diversity, ranging from PH to otopalatodigital syndrome and frontometaphyseal dysplasia ha
Autor:
Guillaume Jondeau, Nathalie Ruiz-Pallares, Jean-Damien Metaizeau, Christel Thauvin-Robinet, Frédéric Huet, Francine Mugneret, Fanny Coron, Bruno Leheup, Catherine Boileau, Edith Durand, Patrick Callier, Laurence Faivre, Philippe Khau Van Kien, Aurélie Plancke, Jean-Eric Wolf, Samuel Bidot, Delphine Minot, Corinne Baudoin, Véronique Dulieu, Mireille Claustres
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical