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paraganglioma

  • Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
    Alexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický, Sophie Lejeune, Jean Louis Sadoul, Anne Barlier, Stephane Richard, Judith Favier, Nelly Burnichon, Betty Gardie, Patricia L Dahia, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo
    Journal of Medical Genetics Nov 2020, 57 (11) 752-759; DOI: 10.1136/jmedgenet-2019-106519
  • Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma
    Jean Pierre Bayley, Birke Bausch, Johannes Adriaan Rijken, Leonie Theresia van Hulsteijn, Jeroen C Jansen, David Ascher, Douglas Eduardo Valente Pires, Frederik J Hes, Erik F Hensen, Eleonora P M Corssmit, Peter Devilee, Hartmut P H Neumann
    Journal of Medical Genetics Feb 2020, 57 (2) 96-103; DOI: 10.1136/jmedgenet-2019-106214
  • Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
    Laurène Ben Aim, Pascal Pigny, Luis Jaime Castro-Vega, Alexandre Buffet, Laurence Amar, Jérôme Bertherat, Delphine Drui, Isabelle Guilhem, Eric Baudin, Charlotte Lussey-Lepoutre, Carole Corsini, Gérard Chabrier, Claire Briet, Laurence Faivre, Catherine Cardot-Bauters, Judith Favier, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon
    Journal of Medical Genetics Aug 2019, 56 (8) 513-520; DOI: 10.1136/jmedgenet-2018-105714
  • Bayesian approach to determining penetrance of pathogenic SDH variants
    Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh
    Journal of Medical Genetics Nov 2018, 55 (11) 729-734; DOI: 10.1136/jmedgenet-2018-105427