Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Annabelle Venisse"'
Autor:
Anne-Paule Gimenez-Roqueplo, Luis Jaime Castro-Vega, Judith Favier, Arturo Londoño-Vallejo, Aurélien de Reyniès, Jérôme Bertherat, Laurence Amar, Mathilde Sibony, Tchao Meatchi, Virginie Verkarre, Estelle Robidel, Annabelle Venisse, Charles Lépine, Jérôme Cros, Alexandre Buffet, Nelly Burnichon, Irena Draskovic, Sylvie Job
Purpose:Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. Whereas most PPGLs are benign, up to 20% may become metastatic with SDHB- and FH-mutated tumors showing the higher risk. We aimed at determining the contribution of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c5fcd8ab57f72a898dfd38a2dca444f
https://doi.org/10.1158/1078-0432.c.6529110.v1
https://doi.org/10.1158/1078-0432.c.6529110.v1
Autor:
Anne-Paule Gimenez-Roqueplo, Luis Jaime Castro-Vega, Judith Favier, Arturo Londoño-Vallejo, Aurélien de Reyniès, Jérôme Bertherat, Laurence Amar, Mathilde Sibony, Tchao Meatchi, Virginie Verkarre, Estelle Robidel, Annabelle Venisse, Charles Lépine, Jérôme Cros, Alexandre Buffet, Nelly Burnichon, Irena Draskovic, Sylvie Job
Supplementary Data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b486f4baf83f91dcb8464985d6833f
https://doi.org/10.1158/1078-0432.22475586.v1
https://doi.org/10.1158/1078-0432.22475586.v1
Autor:
Charles Lépine, Annabelle Venisse, Sylvie Job, Mathilde Sibony, Tchao Meatchi, Estelle Robidel, Jérôme Cros, Alexandre Buffet, Judith Favier, Nelly Burnichon, Luis Jaime Castro-Vega, Virginie Verkarre, Anne-Paule Gimenez-Roqueplo, Laurence Amar, Aurélien de Reyniès, Arturo Londoño-Vallejo, Irena Draskovic, Jérôme Bertherat
Publikováno v:
Clinical Cancer Research
Clinical Cancer Research, American Association for Cancer Research, 2019, 25 (2), pp.760-770. ⟨10.1158/1078-0432.CCR-18-0139⟩
Clinical Cancer Research, American Association for Cancer Research, 2019, 25 (2), pp.760-770. ⟨10.1158/1078-0432.CCR-18-0139⟩
Purpose: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. Whereas most PPGLs are benign, up to 20% may become metastatic with SDHB- and FH-mutated tumors showing the higher risk. We aimed at determining the contribution of
Autor:
Salma Adham, Sophie Dupuis-Girod, Michael Frank, Karine Auribault, Magali Devriese, Xavier Jeunemaitre, Annabelle Venisse, Jean Michael Mazzella, Christophe Simian, Anne Legrand, Juliette Albuisson
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (7), pp.1568-1575. ⟨10.1038/s41436-018-0356-2⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (7), pp.1568-1575. ⟨10.1038/s41436-018-0356-2⟩
International audience; Purpose: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental m
Autor:
Maria-Christina Zennaro, Jurgen Del Favero, Anne Legrand, Rosa Vargas-Poussou, Annabelle Venisse, Robert Kleta, Isabelle Roncelin, Karin Dahan, Nathalie Godefroid, Lucy Jenkins, Annelies Rotthier, Stephen B. Walsh, Daniela Iancu, Franz Schaefer, William van’t Hoff, Valerie Benoit, Emma Ashton, Xavier Jeunemaitre, Detlef Bockenhauer, Olivier Devuyst
Publikováno v:
Kidney international, Vol. 93, no. 4, p. 961-967 (2018)
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8d447afc5d66ce501fd06000293b13
https://hdl.handle.net/2078.1/198182
https://hdl.handle.net/2078.1/198182
Autor:
Valérie Boccio, Jean-Michael Mazzella, Annabelle Venisse, Karine Auribault, Boris Keren, Michael Frank, Wafa Samkari, Xavier Jeunemaitre, Anne Legrand, Laurence Cornez, Dominique P. Germain, Karelle Benistan, Juliette Albuisson
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, Nature Publishing Group, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
International audience; Purpose: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764bf321c5fa28391122a94476456dd4
https://hal.archives-ouvertes.fr/hal-01879799
https://hal.archives-ouvertes.fr/hal-01879799
Autor:
Marine Guillaud-Bataille, Laurence Guignat, Nelly Burnichon, N. Abermil, Pierre-François Plouin, Delphine Drui, Claire Josseaume, Anne-Paule Gimenez-Roqueplo, Jérôme Bertherat, Philippe Manivet, Annabelle Venisse, Maurice Chupin, Xavier Jeunemaitre, Hélène Affres
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 97:E805-E809
TMEM127 is a novel pheochromocytoma (PCC) susceptibility gene.Our aim was to clearly determine the indications for TMEM127 genetic testing in patients with PCC and/or paraganglioma (PGL).Germline DNA from 642 unrelated patients who did not carry muta
Autor:
Rosa Vargas-Poussou, Annabelle Venisse, Carole Collet-Gaudillat, Marion Vallet, Valérie Nau, Pascal Houillier, Renaud de la Faille, Xavier Jeunemaitre
Publikováno v:
NDT Plus
Clinical Kidney Journal
Clinical Kidney Journal
Gitelman’s syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over tw
Autor:
Jean-Luc Elghozi, Anne-Paule Gimenez-Roqueplo, Jean-Paul Richalet, Michel Azizi, Annabelle Venisse, Nelly Burnichon, Anissa Bouzamondo, Séverine Peyrard, Laure Marelle, Xavier Jeunemaitre
Publikováno v:
Clinical Autonomic Research. 19:335-342
The detection of hypoxia by the carotid bodies elicits a ventilatory response of utmost importance for tolerance to high altitude. Germline mutations in three genes encoding subunit B, C and D of succinate dehydrogenase (SDHB, SDHC and SDHD) have bee
Autor:
Philippe Thieblot, N. Wion-Barbot, Pierre-François Plouin, Philippe Herman, Vincent Rohmer, Nelly Burnichon, Annabelle Venisse, Patricia Niccoli, Xavier Jeunemaitre, Sophie Leboulleux, Arnaud Murat, Anne-Paule Gimenez-Roqueplo, Dominique Gaillard, Frédéric Chabolle, P. Lecomte, Gérard Chabrier, Jérôme Bertherat, Vincent Darrouzet, Laurence Amar, Isabelle Coupier
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 94:2817-2827
Germline mutations in SDHx genes cause hereditary paraganglioma.The aim of the study was to assess the indications for succinate dehydrogenase (SDH) genetic testing in a prospective study.A total of 445 patients with head and neck and/or thoracic-abd