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pheochromocytoma

  • 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