Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Simon Faillot"'
Autor:
Bertrand Dousset, Simon Faillot, Anna Vaczlavik, Jean Guibourdenche, Lionel Groussin, Mathilde Sibony, Fideline Bonnet-Serrano, Stéphanie Espiard, Amandine Septier, Mario Neou, Ludivine Drougat, Marthe Rizk-Rabin, Bruno Ragazzon, Guillaume Assié, Simon Garinet, Thomas Foulonneau, Anne Jouinot, Windy Rondof, Rossella Libé, Karine Hecale-Perlemoine, Aurélien de Reyniès, Jérôme Bertherat
Publikováno v:
Endocrine-Related Cancer
Endocrine-Related Cancer, BioScientifica, 2020, ⟨10.1530/ERC-20-0128⟩
Endocrine-Related Cancer, BioScientifica, 2020, ⟨10.1530/ERC-20-0128⟩
Benign adrenal tumors cover a spectrum of lesions with distinct morphology and steroid secretion. Current classification is empirical. Beyond a few driver mutations, pathophysiology is not well understood. Here, a pangenomic characterization of benig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fee80574d1ec6a22da6d1142eb8ff701
https://pubmed.ncbi.nlm.nih.gov/33151900
https://pubmed.ncbi.nlm.nih.gov/33151900
Autor:
Windy Luscap-Rondof, Julien Sakat, Simon Faillot, Sébastien Gaujoux, Eric Pasmant, Mario Neou, Juliana Pipoli da Fonseca, Christophe Le Tourneau, Franck Letourneur, Jérôme Bertherat, Anne Jouinot, Simon Garinet, Guillaume Assié, Michel Vidaud, Bruno de La Villéon, Maud Kamal, Valentina Boeva
Publikováno v:
The Journal of Molecular Diagnostics. 19:776-787
Pangenomic studies identified distinct molecular classes for many cancers, with major clinical applications. However, routine use requires cost-effective assays. We assessed whether targeted next-generation sequencing (NGS) could call chromosomal alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::445c0510ff2044ec6f5e429786fcdccb
https://doi.org/10.1016/j.jmoldx.2017.06.005
https://doi.org/10.1016/j.jmoldx.2017.06.005
Autor:
Esther Korpershoek, Xavier Bertagna, Mario Neou, Olivier Chabre, Simon Faillot, Matthias Kroiss, Mathilde Sibony, Karine Perlemoine, Marcus Quinkler, Lionel Groussin, Julien Sakat, Frédérique Tissier, Massimo Mannelli, Guillaume Assié, Laurence Amar, Krijger Ronald De, Antoine Tabarin, Rossella Libe, Nadim Hamzaoui, Anne Jouinot, Silviu Sbiera, Joel Coste, Jens Waldmann, Michaela Luconi, Cristina L Ronchi, Bertrand Dousset, Jérôme Bertherat, Louis Jacob, Felix Beuschlein, Eric Baudin, Martin Fassnacht, Simon Garinet
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b7696ba93e2c94ba9c72bfc380c8361
https://doi.org/10.1530/endoabs.56.oc11.2
https://doi.org/10.1530/endoabs.56.oc11.2
Autor:
Simon, Garinet, Mario, Néou, Bruno, de La Villéon, Simon, Faillot, Julien, Sakat, Juliana P, Da Fonseca, Anne, Jouinot, Christophe, Le Tourneau, Maud, Kamal, Windy, Luscap-Rondof, Valentina, Boeva, Sebastien, Gaujoux, Michel, Vidaud, Eric, Pasmant, Franck, Letourneur, Jérôme, Bertherat, Guillaume, Assié
Publikováno v:
The Journal of molecular diagnostics : JMD. 19(5)
Pangenomic studies identified distinct molecular classes for many cancers, with major clinical applications. However, routine use requires cost-effective assays. We assessed whether targeted next-generation sequencing (NGS) could call chromosomal alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::517fbea78a4b6c741ca49ef9016f94eb
https://pubmed.ncbi.nlm.nih.gov/28826610
https://pubmed.ncbi.nlm.nih.gov/28826610
Autor:
Stéphanie Espiard, Davide Calebiro, Simon Faillot, Matthias J. Knape, Daniel Abid, Constantine Stratakis, Guillaume Assié, Jérôme Bertherat, Kerstin Bathon, Friedrich W. Herberg
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d1565ce6a09b977bf57d9c973512c46
https://doi.org/10.1530/endoabs.49.gp28
https://doi.org/10.1530/endoabs.49.gp28
Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation
Autor:
Cristina L Ronchi, Felix Beuschlein, Silviu Sbiera, Martin Fassnacht, Carla Scaroni, Massimo Mannelli, Guido Di Dalmazi, Iacopo Chiodini, Beatrice Rubin, Jens Waldmann, Franco Mantero, Martin Reincke, Detlef K. Bartsch, Davide Calebiro, Thomas Schwarzmayr, Tim M. Strom, Silke Appenzeller, Guillaume Assié, Darko Kastelan, Jérôme Bertherat, Simon Faillot, Isabel Weigand
Publikováno v:
J. Clin. Endocrinol. Metab. 101, 3526-3538 (2016)
Context: Adrenocortical adenomas (ACAs) are among the most frequent human neoplasias. Genetic alterations affecting the cAMP/protein kinase A signaling pathway are common in cortisol-producing ACAs, whereas activating mutations in the gene encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6734d627bca6109545651869c112399a
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49043
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49043
Autor:
Kerstin Bathon, Jérôme Bertherat, D. Abid, M. Knape, Simon Faillot, Guillaume Assié, Friedrich W. Herberg, Davide Calebiro, Ludivine Drougat, C. A. Stratakis, Stéphanie Espiard
Publikováno v:
Annales d'Endocrinologie. 77:265-266
Introduction Les mutations somatiques de PRKACA representent environ 40 % des adenomes surrenaliens cortisoliques (ASC). Dans un travail preliminaire de sequencage de l’exome de 8 ASC, nous avions identifie une mutation de PRKACB (p.S54L). L’obje
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa3b258c43ea724ab33cb6532c3be2da
https://doi.org/10.1016/j.ando.2016.07.089
https://doi.org/10.1016/j.ando.2016.07.089
Autor:
Fernande René-Corail, J. Nectoux, J. Pipoli, Simon Faillot, Franck Letourneur, Karine Perlemoine, Anne Jouinot, Simon Garinet, Eric Pasmant, R. Libe, Guillaume Assié, Michel Vidaud, Eric Clauser, Jérôme Bertherat, Mario Neou
Publikováno v:
Annales d'Endocrinologie. 77:278
Introduction Les cancers relarguent dans la circulation de l’ADN tumoral circulant. Le ctDNA peut etre detecte en recherchant dans le plasma les mutations somatiques prealablement identifiees dans la tumeur. Les mutations somatiques du corticosurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae5c70d5c280d832c95d365b097a8f5f
https://doi.org/10.1016/j.ando.2016.07.122
https://doi.org/10.1016/j.ando.2016.07.122