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pro vyhledávání: '"N. De Roux"'
Akademický článek
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Publikováno v:
Annales d'Endocrinologie. 83:352
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62448e56f769f0242e5d5a4b212e8fac
https://doi.org/10.1016/j.ando.2022.07.194
https://doi.org/10.1016/j.ando.2022.07.194
Publikováno v:
Annales d'Endocrinologie. 82:275-276
L’hypogonadisme hypogonadotrope congenital (CHH) est une maladie rare caracterisee par un dysfonctionnement de l’axe gonadotrope. La variabilite clinique de cette maladie rare est associee a une heterogeneite genetique. En effet, au moins 40 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe3c1130ec57044bdd48eb3e28554167
https://doi.org/10.1016/j.ando.2021.08.059
https://doi.org/10.1016/j.ando.2021.08.059
Akademický článek
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Autor:
P. Wajer, A. Casciello, Chris H. Okubo, Anthony Servonet, E. Pelò, T. Zawistowski, Sándor Szalai, W. J. Markiewicz, Pascal Elias Gubler, Mary Ann Johnson, Ruslan O. Kuzmin, Lucia Marinangeli, Mario Gruber, I. Ficai Veltroni, Daniele Piazza, Piotr Orleanski, V. Da Deppo, Stefano Debei, N. De Roux, G. Cremonese, T. Hausner, E. Hauber, Ruth Ziethe, Matteo Massironi, P. Lochmatter, Mathias Brändli, Werner Trottmann, G. Sutter, A. Ivanov, Harald Mischler, Lajos Keszthelyi, T. Weigel, B. Sodor, Kaustav Ghose, Martin Rieder, M. Banaskiewicz, Stepan Tulyakov, G. Troznai, Antoine Pommerol, Marc Erismann, T. Uthaicharoenpong, J. Viertl, Shane Byrne, John Bridges, Mohamed Ramy El-Maarry, Giordano Bruno, J. Jost, D. Vernani, Nicolas Thomas, Michael Gerber, Victoria Ann Roloff, Claudio Zimmermann, Livio L. Tornabene, Witold Nowosielski, C. J. Hansen, N. Mangold, Lisa Gambicorti, Thomas Gerber, James J. Wray, R. L. Kirk, Alfred S. McEwen
Publikováno v:
Space science reviews 212 (2017): 1897–1944. doi:10.1007/s11214-017-0421-1
info:cnr-pdr/source/autori:Thomas, N.; Cremonese, G.; Ziethe, R.; Gerber, M.; Brändli, M.; Bruno, G.; Erismann, M.; Gambicorti, L.; Gerber, T.; Ghose, K.; Gruber, M.; Gubler, P.; Mischler, H.; Jost, J.; Piazza, D.; Pommerol, A.; Rieder, M.; Roloff, V.; Servonet, A.; Trottmann, W.; Uthaicharoenpong, T.; Zimmermann, C.; Vernani, D.; Johnson, M.; Pelò, E.; Weigel, T.; Viertl, J.; De Roux, N.; Lochmatter, P.; Sutter, G.; Casciello, A.; Hausner, T.; Ficai Veltroni, I.; Da Deppo, V.; Orleanski, P.; Nowosielski, W.; Zawistowski, T.; Szalai, S.; Sodor, B.; Tulyakov, S.; Troznai, G.; Banaskiewicz, M.; Bridges, J. C.; Byrne, S.; Debei, S.; El-Maarry, M. R.; Hauber, E.; Hansen, C. J.; Ivanov, A.; Keszthelyi, L.; Kirk, R.; Kuzmin, R.; Mangold, N.; Marinangeli, L.; Markiewicz, W. J.; Massironi, M.; McEwen, A. S.; Okubo, C.; Tornabene, L. L.; Wajer, P.; Wray, J. J./titolo:The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter/doi:10.1007%2Fs11214-017-0421-1/rivista:Space science reviews/anno:2017/pagina_da:1897/pagina_a:1944/intervallo_pagine:1897–1944/volume:212
Thomas, Nicolas; Cremonese, G.; Ziethe, Ruth; Gerber, Michael; Brändli, Mathias; Bruno, Giordano; Erismann, Marc; Gambicorti, Lisa; Gerber, Thomas; Ghose, Kaustav; Gruber, Mario; Gubler, Pascal Elias; Mischler, Harald; Jost, Jürg; Piazza, Daniele; Pommerol, Antoine; Rieder, Martin; Roloff, Victoria Ann; Servonet, Anthony; Trottmann, Werner; ... (2017). The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter. Space science reviews, 212(3-4), pp. 1897-1944. Springer 10.1007/s11214-017-0421-1
info:cnr-pdr/source/autori:Thomas, N.; Cremonese, G.; Ziethe, R.; Gerber, M.; Brändli, M.; Bruno, G.; Erismann, M.; Gambicorti, L.; Gerber, T.; Ghose, K.; Gruber, M.; Gubler, P.; Mischler, H.; Jost, J.; Piazza, D.; Pommerol, A.; Rieder, M.; Roloff, V.; Servonet, A.; Trottmann, W.; Uthaicharoenpong, T.; Zimmermann, C.; Vernani, D.; Johnson, M.; Pelò, E.; Weigel, T.; Viertl, J.; De Roux, N.; Lochmatter, P.; Sutter, G.; Casciello, A.; Hausner, T.; Ficai Veltroni, I.; Da Deppo, V.; Orleanski, P.; Nowosielski, W.; Zawistowski, T.; Szalai, S.; Sodor, B.; Tulyakov, S.; Troznai, G.; Banaskiewicz, M.; Bridges, J. C.; Byrne, S.; Debei, S.; El-Maarry, M. R.; Hauber, E.; Hansen, C. J.; Ivanov, A.; Keszthelyi, L.; Kirk, R.; Kuzmin, R.; Mangold, N.; Marinangeli, L.; Markiewicz, W. J.; Massironi, M.; McEwen, A. S.; Okubo, C.; Tornabene, L. L.; Wajer, P.; Wray, J. J./titolo:The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter/doi:10.1007%2Fs11214-017-0421-1/rivista:Space science reviews/anno:2017/pagina_da:1897/pagina_a:1944/intervallo_pagine:1897–1944/volume:212
Thomas, Nicolas; Cremonese, G.; Ziethe, Ruth; Gerber, Michael; Brändli, Mathias; Bruno, Giordano; Erismann, Marc; Gambicorti, Lisa; Gerber, Thomas; Ghose, Kaustav; Gruber, Mario; Gubler, Pascal Elias; Mischler, Harald; Jost, Jürg; Piazza, Daniele; Pommerol, Antoine; Rieder, Martin; Roloff, Victoria Ann; Servonet, Anthony; Trottmann, Werner; ... (2017). The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter. Space science reviews, 212(3-4), pp. 1897-1944. Springer 10.1007/s11214-017-0421-1
The Colour and Stereo Surface Imaging System (CaSSIS) is the main imaging system onboard the European Space Agency’s ExoMars Trace Gas Orbiter (TGO) which was launched on 14 March 2016. CaSSIS is intended to acquire moderately high resolution (4.6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca801692abd638a78ed7acb38e5a82cb
http://hdl.handle.net/20.500.12386/28131
http://hdl.handle.net/20.500.12386/28131
Autor:
Elodie Tron, Taíse Lima de Oliveira Cerqueira, N. De Roux, Helton Estrela Ramos, Aurore Carre, C Queinnec, M. Polak, Juliane Léger, Lucie Chevrier, Loïc Guillot, Sylvie Cabrol, O Puel, Gabor Szinnai, Mireille Castanet
Publikováno v:
European Journal of Endocrinology. 171:499-507
ContextWithin the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations.ObjectivesTo search for PAX8 mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b0abb6620b2de34436e408ad8fe1c9
https://doi.org/10.1530/eje-13-1006
https://doi.org/10.1530/eje-13-1006
Publikováno v:
Annales d'Endocrinologie. 70:2-13
Congenital hypogonadotropic hypogonadism is defined by reduced steroid hormone synthesis and secretion due to low LH and FSH secretion. It is a rare disease with an unknown prevalence (about 1/5000). It results from a fetal defect in GnRH neuron migr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d703017dc5721421f65eecbbc999ad35
https://doi.org/10.1016/j.ando.2008.06.005
https://doi.org/10.1016/j.ando.2008.06.005
Autor:
Jamel Chelly, Christophe Philippe, J.P. Bonnefond, Laurent Villard, Thierry Bienvenu, Anne Moncla, N. De Roux, Philippe Jonveaux, Laurent Pasquier, Josette Mancini, Gaetan Lesca, Martine Raynaud
Publikováno v:
European Journal of Medical Genetics. 49:9-18
Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene rearrangements that escape the common PCR-based mutation scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7b09a2342c4c65f62b655103d980738
https://doi.org/10.1016/j.ejmg.2005.04.003
https://doi.org/10.1016/j.ejmg.2005.04.003
Publikováno v:
Scopus-Elsevier
Isolated gonadotropic deficiency or isolated hypogonadotropic hypogonadism is defined as a low sexual hormone secretion by the gonads associated with low LH and FSH plasma levels. Kallmann syndrome is defined as a congenital isolated gonadotropic def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f0960e3a16331443dda5646b7c635d
https://doi.org/10.1530/eje.0.151u083
https://doi.org/10.1530/eje.0.151u083
Autor:
N. De Roux, Fabien Guimiot, L. Gonzalez-Briceno, Véronique Kerlan, D. Ben Salem, E. Sonnet, J.-M. Malecot, P. Gunczler
Publikováno v:
Annales d'Endocrinologie. 77:255-256
Les mouvements en miroir (MM + ) sont frequemment rapportes chez les patients ayant un syndrome de Kallmann (SK + ), en cas de mutation d’ANOS1 (KAL1) sur le chromosome X. Il n’a jamais ete decrit de MM + chez les femmes ANOS1 + . L’hypothese d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e17f12b1b21c47133336836dc5936add
https://doi.org/10.1016/j.ando.2016.07.065
https://doi.org/10.1016/j.ando.2016.07.065