Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Laurene Ben Aim"'
Autor:
Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
Publikováno v:
Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Funder: Cancer Research UK Cambridge Cancer Centre
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Background: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696
https://hdl.handle.net/11351/9696
Autor:
Laurene, Ben Aim, Eamonn R, Maher, Alberto, Cascon, Anne, Barlier, Sophie, Giraud, Tonino, Ercolino, Pascal, Pigny, Roderick J, Clifton-Bligh, Delphine, Mirebeau-Prunier, Amira, Mohamed, Judith, Favier, Anne-Paule, Gimenez-Roqueplo, Francesca, Schiavi, Rodrigo A, Toledo, Patricia L, Dahia, Mercedes, Robledo, Jean Pierre, Bayley, Nelly, Burnichon
Publikováno v:
Journal of medical genetics. 59(8)
A total of 223 distinctThis multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d919922d0db87f10b9c47ca9a99899b
https://pubmed.ncbi.nlm.nih.gov/34452955
https://pubmed.ncbi.nlm.nih.gov/34452955
Autor:
Lucile Offredo, Delphine Zenaty, Eric Baudin, Antoine Tabarin, Peggy Pierre, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo, Philippe Herman, Igor Tauveron, Frédéric Chabolle, Judith Favier, Olivier Chabre, Laurence Amar, Christiane Ajzenberg, Rossella Libé, Yves Reznik, Brigitte Delemer, Bernard Goichot, Delphine Vezzosi, Laurene Ben Aim, Julien Hadoux, Delphine Drui, Vincent Darrouzet, Sandrine Laboureau, Sophie Leboulleux, Isabelle Raingeard, Jean-Louis Sadoul, Daniele Bernardeschi, Annabelle Esvant, Bertrand Cariou, Hervé Lefebvre, Jérôme Bertherat, Rachel Desailloud
Publikováno v:
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2019, 104 (4), pp.1109-1118. ⟨10.1210/jc.2018-02411⟩
ECE2019 abstractbook
21st European Congress of Endocrinology
21st European Congress of Endocrinology, May 2019, Lyon, France. pp.OC5.1, ⟨10.1530/endoabs.63.OC5.1⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2019, 104 (4), pp.1109-1118. ⟨10.1210/jc.2018-02411⟩
ECE2019 abstractbook
21st European Congress of Endocrinology
21st European Congress of Endocrinology, May 2019, Lyon, France. pp.OC5.1, ⟨10.1530/endoabs.63.OC5.1⟩
International audience; OC5.1Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytomaContextParagangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d763b9590045b9bf255620a46269b7e
https://hal-normandie-univ.archives-ouvertes.fr/hal-02419895
https://hal-normandie-univ.archives-ouvertes.fr/hal-02419895
Autor:
Charlotte Lussey-Lepoutre, Alexandre Buffet, Gérard Chabrier, Claire Briet, Laurence Faivre, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Judith Favier, Isabelle Guilhem, Delphine Drui, Eric Baudin, Luis Jaime Castro-Vega, Pascal Pigny, Jérôme Bertherat, Laurence Amar, Laurene Ben Aim, Carole Corsini, Catherine Cardot-Bauters
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56, pp.513-520. ⟨10.1136/jmedgenet-2018-105714⟩
Journal of Medical Genetics, 2019, 56, pp.513-520. ⟨10.1136/jmedgenet-2018-105714⟩
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56, pp.513-520. ⟨10.1136/jmedgenet-2018-105714⟩
Journal of Medical Genetics, 2019, 56, pp.513-520. ⟨10.1136/jmedgenet-2018-105714⟩
BackgroundKnowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to improve the diagnostic performances of PPGL genetic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bdd3f326b883c5bad980431a929268e
https://hal.archives-ouvertes.fr/hal-03117390/document
https://hal.archives-ouvertes.fr/hal-03117390/document