Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Mélanie Menara"'
Autor:
Kate E.R. Hollinshead, Judith Favier, Christian Ludwig, Charlotte Lussey-Lepoutre, Mélanie Menara, Aurélie Morin, Daniel A. Tennant, Anne-Paule Gimenez-Roqueplo
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::472abf9b0f7cd1e00f8925caf8435bc9
https://doi.org/10.1530/endoabs.50.s5.2
https://doi.org/10.1530/endoabs.50.s5.2
Autor:
Mélanie Menara, Mercedes Robledo, Aguirre A. de Cubas, Laurence Amar, Luis Jaime Castro-Vega, Valérie Franco-Vidal, Emmanuel Khalifa, Maria Currás-Freixes, Judith Favier, Sharona Azriel, Alexandre Buffet, Olivier Chabre, Alberto Cascón, Álvaro Gómez-Graña, Aurélie Morin, Pierre Rustin, Marine Guillaud-Bataille, Isabelle Bourdeau, Anne-Paule Gimenez-Roqueplo, Patrick J. Pollard, Rocío Letón, Christophe Simian
Publikováno v:
Human Molecular Genetics; Vol 23
Malignant pheochromocytoma (PCC) and paraganglioma (PGL) are mostly caused by germline mutations of SDHB, encoding a subunit of succinate dehydrogenase. Using whole-exome sequencing, we recently identified a mutation in the FH gene encoding fumarate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154e74d9f8020065eeadad55d337fe58
Autor:
Chris Ottolenghi, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Pierre Rustin, Maxime Janin, Aurélien de Reyniès, Charles Marcaillou, N. Abermil, Judith Favier, Alexandre Buffet, Laurence Amar, Jérôme Bertherat, Eric Letouzé, Paule Bénit, Mélanie Menara, Cosimo Martinelli, Céline Loriot, An Thach Nguyen
Publikováno v:
Cancer Cell
Cancer Cell; Vol 23
Cancer Cell; Vol 23
SummaryParagangliomas are neuroendocrine tumors frequently associated with mutations in RET, NF1, VHL, and succinate dehydrogenase (SDHx) genes. Methylome analysis of a large paraganglioma cohort identified three stable clusters, associated with dist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::635c0865d5070873ccbc0414447395e7
Autor:
Céline, Loriot, Mélanie, Domingues, Adeline, Berger, Mélanie, Menara, Maëva, Ruel, Aurélie, Morin, Luis-Jaime, Castro-Vega, Éric, Letouzé, Cosimo, Martinelli, Alexis-Pierre, Bemelmans, Lionel, Larue, Anne-Paule, Gimenez-Roqueplo, Judith, Favier
Publikováno v:
Oncotarget
Metastatic pheochromocytomas and paragangliomas (PPGL) are malignant neuroendocrine tumors frequently associated with germline mutations in the SDHB gene. SDHB-mutated PPGL display a hypermethylator phenotype associated with hallmarks of epithelial-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66234bcb3d637593d56bd8539c0899f6
https://pubmed.ncbi.nlm.nih.gov/26460615
https://pubmed.ncbi.nlm.nih.gov/26460615
Autor:
Anne Paule Gimenez-Roqueplo, Judith Favier, Lindsey Oudijk, Cécile Badoual, Frank Zinzindohoué, Ronald R. de Krijger, Mathilde Sibony, Xavier Iturrioz, Mélanie Menara, Jérôme Bertherat, Laurence Amar, Charlotte Lepoutre-Lussey
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 100(2), E287-E291. Endocrine Society
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (2), pp.E287-E291. ⟨10.1210/jc.2014-1870⟩
Journal of Clinical Endocrinology and Metabolism, 100(2), E287. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2015, 100 (2), pp.E287-E291. ⟨10.1210/jc.2014-1870⟩
Journal of Clinical Endocrinology and Metabolism, 100(2), E287. The Endocrine Society
Context: Pheochromocytomas (PCC) and paragangliomas (PGL) may be caused by a germline mutation in 12 different predisposing genes. We previously reported that immunohistochemistry is a useful approach to detect patients harboring SDHx mutations. SDHA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4925a3d3382abf844cfc38b10e844043
https://dspace.library.uu.nl/handle/1874/349925
https://dspace.library.uu.nl/handle/1874/349925
Autor:
Judith Favier, Arnaud Murat, Alexandre Buffet, Sarra Smati, Christophe Simian, Marie-Françoise Heymann, Maëlle Lebras, Mélanie Menara, Ludovic Mansuy, Anne-Paule Gimenez-Roqueplo, Bertrand Cariou
Publikováno v:
The Journal of clinical endocrinology and metabolism. 99(2)
HIF2A germline mutations were known to cause congenital polycythemia. Recently, HIF2A somatic mutations were found in several patients with polycythemia and paraganglioma, pheochromocytoma, or somatostatinoma, suggesting the occurrence of a de novo p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20944899203a2a8f2b14e96a035bc18
https://pubmed.ncbi.nlm.nih.gov/24276449
https://pubmed.ncbi.nlm.nih.gov/24276449
Autor:
M. Lebras, Anne-Paule Gimenez-Roqueplo, Bertrand Cariou, Mélanie Menara, Alexandre Buffet, Arnaud Murat, N. Abermil, Sarra Smati, Pierre-François Plouin, C. Simian, Judith Favier, L. Mansuy
Publikováno v:
Annales d'Endocrinologie. 74:380
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86b891e03eb79762e6cfe2ca48d35a5f
https://doi.org/10.1016/j.ando.2013.07.493
https://doi.org/10.1016/j.ando.2013.07.493