Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paragangliom...
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
About this item
Full title
Author / Creator
Ben Aim, Laurène , Pigny, Pascal , Castro-Vega, Luis Jaime , Buffet, Alexandre , Amar, Laurence , Bertherat, Jérôme , Drui, Delphine , Guilhem, Isabelle , Baudin, Eric , Lussey-Lepoutre, Charlotte , Corsini, Carole , Chabrier, Gérard , Briet, Claire , Faivre, Laurence , Cardot-Bauters, Catherine , Favier, Judith , Gimenez-Roqueplo, Anne-Paule and Burnichon, Nelly
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
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 testing by next-generation sequencing (NGS).MethodsWe developed a custom multigene panel, which inclu...
Alternative Titles
Full title
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
Authors, Artists and Contributors
Author / Creator
Pigny, Pascal
Castro-Vega, Luis Jaime
Buffet, Alexandre
Amar, Laurence
Bertherat, Jérôme
Drui, Delphine
Guilhem, Isabelle
Baudin, Eric
Lussey-Lepoutre, Charlotte
Corsini, Carole
Chabrier, Gérard
Briet, Claire
Faivre, Laurence
Cardot-Bauters, Catherine
Favier, Judith
Gimenez-Roqueplo, Anne-Paule
Burnichon, Nelly
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03117390v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03117390v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105714
