1. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Issue 2 (March 2020) Authors: Buffet, Alexandre; Burnichon, Nelly; Favier, Judith; Gimenez-Roqueplo, Anne-Paule Journal: Best practice & research Issue: Volume 34:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. (December 2018) Authors: Leclerc, Julie; Flament, Cathy; Lovecchio, Tonio; Delattre, Lucie; Ait Yahya, Emilie; Baert-Desurmont, Stéphanie; Burnichon, Nelly; Bronner, Myriam; Cabaret, Odile; Lejeune, Sophie; Guimbaud, Rosine; Morin, Gilles; Mauillon, Jacques; Jonveaux, Philippe; Laurent-Puig, Pierre; Frébourg, Thierry; Po... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time. (8th November 2021) Authors: Parisien‐La Salle, Stéfanie; Dumas, Nadine; Bédard, Karine; Jolin, Judith; Moramarco, Jessica; Lacroix, André; Lévesque, Isabelle; Burnichon, Nelly; Gimenez‐Roqueplo, Anne‐Paule; Bourdeau, Isabelle Journal: Clinical endocrinology Issue: Volume 96:Number 6(2022) Page Start: 803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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. Issue 11 (29th January 2020) Authors: Buffet, Alexandre; Calsina, Bruna; Flores, Shahida; Giraud, Sophie; Lenglet, Marion; Romanet, Pauline; Deflorenne, Elisa; Aller, Javier; Bourdeau, Isabelle; Bressac-de Paillerets, Brigitte; Calatayud, María; Dehais, Caroline; De Mones Del Pujol, Erwan; Elenkova, Atanaska; Herman, Philippe; Kameni... Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. (December 2018) Authors: Pujol, Pascal; Vande Perre, Pierre; Faivre, Laurence; Sanlaville, Damien; Corsini, Carole; Baertschi, Bernard; Anahory, Michèle; Vaur, Dominique; Olschwang, Sylviane; Soufir, Nadem; Bastide, Noëlle; Amar, Sarah; Vintraud, Michèle; Ingster, Olivier; Richard, Stéphane; Coz, Pierre; Spano, Jean-Phil... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. Issue 8 (27th August 2021) Authors: Ben Aim, Laurene; Maher, Eamonn R; Cascon, Alberto; Barlier, Anne; Giraud, Sophie; Ercolino, Tonino; Pigny, Pascal; Clifton-Bligh, Roderick J; Mirebeau-Prunier, Delphine; Mohamed, Amira; Favier, Judith; Gimenez-Roqueplo, Anne-Paule; Schiavi, Francesca; Toledo, Rodrigo A; Dahia, Patricia L; Robled... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Long‐Term Outcomes in Head and Neck Paragangliomas Managed with Intensity‐Modulated Radiotherapy. (31st May 2022) Authors: Rougier, Guillaume; Rochand, Adrien; Bourdais, Rémi; Meillan, Nicolas; Tankere, Frédéric; Herman, Philippe; Riet, François; Mazeron, Jean‐Jacques; Burnichon, Nelly; Lussey, Charlotte; Jacob, Julian; Simon, Jean‐Marc; Maingon, Philippe; Feuvret, Loïc Journal: Laryngoscope Issue: Volume 133:Number 3(2023) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I. Issue 3 (19th January 2022) Authors: Sebai, Molka; Tulasne, David; Caputo, Sandrine M.; Verkarre, Virginie; Fernandes, Marie; Guérin, Célia; Reinhart, Fanny; Adams, Séverine; Maugard, Christine; Caron, Olivier; Guillaud‐Bataille, Marine; Berthet, Pascaline; Bignon, Yves‐Jean; Bressac‐de Paillerets, Brigitte; Burnichon, Nelly; Chiesa... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Overexpression of miR‐483‐5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma. Issue 8 (21st December 2020) Authors: Castro‐Vega, Luis Jaime; Calsina, Bruna; Burnichon, Nelly; Drossart, Tom; Martínez‐Montes, Ángel M; Verkarre, Virginie; Amar, Laurence; Bertherat, Jérôme; Rodríguez‐Antona, Cristina; Favier, Judith; Robledo, Mercedes; Gimenez‐Roqueplo, Anne‐Paule Journal: Clinical and translational medicine Issue: Volume 10:Issue 8(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pheochromocytoma and paraganglioma: molecular testing and personalized medicine. Issue 1 (January 2016) Authors: Burnichon, Nelly; Buffet, Alexandre; Gimenez-Roqueplo, Anne-Paule Journal: Current opinion in oncology Issue: Volume 28:Issue 1(2016:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗