HuGE Literature Finder
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Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. European journal of medical genetics 2015 Sep 58 (9): 433-8. Zhu W D, Wang Z Y, Chai Y C, Wang X W, Chen D Y, Wu |
A registry-based study of thyroid paraganglioma: histological and genetic characteristics. Endocrine-related cancer 2015 Apr 22 (2): 191-204. von Dobschuetz Ernst, Leijon Helena, Schalin-Jäntti Camilla, Schiavi Francesca, Brauckhoff Michael, Peczkowska Mariola, Spiazzi Giovanna, Demattè Serena, Cecchini Maria Enrica, Sartorato Paola, Krajewska Jolanta, Hasse-Lazar Kornelia, Roszkowska-Purska Katarzyna, Taschin Elisa, Malinoc Angelica, Akslen Lars A, Arola Johanna, Lange Dariusz, Fassina Ambrogio, Pennelli Gianmaria, Barbareschi Mattia, Luettges Jutta, Prejbisz Aleksander, Januszewicz Andrzej, Strate Tim, Bausch Birke, Castinetti Frederic, Jarzab Barbara, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis. International journal of endocrinology 2015 2015 138573. Luchetti Andrea, Walsh Diana, Rodger Fay, Clark Graeme, Martin Tom, Irving Richard, Sanna Mario, Yao Masahiro, Robledo Mercedes, Neumann Hartmut P H, Woodward Emma R, Latif Farida, Abbs Stephen, Martin Howard, Maher Eamonn |
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1352-60. Welander Jenny, Andreasson Adam, Juhlin C Christofer, Wiseman Roger W, Bäckdahl Martin, Höög Anders, Larsson Catharina, Gimm Oliver, Söderkvist Pet |
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1392-6. Casey Ruth, Garrahy Aoife, Tuthill Antoinette, O'Halloran Domhnall, Joyce Caroline, Casey Mary B, O'Shea Paula, Bell Marc |
Long-term prognosis of patients with pediatric pheochromocytoma. Endocrine-related cancer 2014 Feb 21 (1): 17-25. Bausch Birke, Wellner Ulrich, Bausch Dirk, Schiavi Francesca, Barontini Marta, Sanso Gabriela, Walz Martin K, Peczkowska Mariola, Weryha Georges, Dall'igna Patrizia, Cecchetto Giovanni, Bisogno Gianni, Moeller Lars C, Bockenhauer Detlef, Patocs Attila, Rácz Karoly, Zabolotnyi Dmitry, Yaremchuk Svetlana, Dzivite-Krisane Iveta, Castinetti Frederic, Taieb David, Malinoc Angelica, von Dobschuetz Ernst, Roessler Jochen, Schmid Kurt W, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2013 Jul 98 (7): E1248-56. Rattenberry Eleanor, Vialard Lindsey, Yeung Anna, Bair Hayley, McKay Kirsten, Jafri Mariam, Canham Natalie, Cole Trevor R, Denes Judit, Hodgson Shirley V, Irving Richard, Izatt Louise, Korbonits Márta, Kumar Ajith V, Lalloo Fiona, Morrison Patrick J, Woodward Emma R, Macdonald Fiona, Wallis Yvonne, Maher Eamonn |
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical endocrinology 2011 Nov 75 (5): 650-5. Hensen E F, Siemers M D, Jansen J C, Corssmit E P M, Romijn J A, Tops C M J, van der Mey A G L, Devilee P, Cornelisse C J, Bayley J P, Vriends A H J |
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. The Lancet. Oncology 2010 Apr 11 (4): 366-72. Bayley Jean-Pierre, Kunst Henricus P M, Cascon Alberto, Sampietro Maria Lourdes, Gaal José, Korpershoek Esther, Hinojar-Gutierrez Adolfo, Timmers Henri J L M, Hoefsloot Lies H, Hermsen Mario A, Suárez Carlos, Hussain A Karim, Vriends Annette H J T, Hes Frederik J, Jansen Jeroen C, Tops Carli M, Corssmit Eleonora P, de Knijff Peter, Lenders Jacques W M, Cremers Cor W R J, Devilee Peter, Dinjens Winand N M, de Krijger Ronald R, Robledo Merced |
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism 2010 Mar 95 (3): 1274-8. Gaal José, Burnichon Nelly, Korpershoek Esther, Roncelin Isabelle, Bertherat Jérôme, Plouin Pierre-François, de Krijger Ronald R, Gimenez-Roqueplo Anne-Paule, Dinjens Winand N |
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