HuGE Literature Finder
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Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors. Neoplasma 2020 4 67 (4): 898-908. Shinriki S, Maeshiro M, Shimamura K, Kawashima J, Araki E, Ibusuki M, Yamamoto Y, Iwase H, Miyamoto Y, Baba H, Yamaguchi M, Matsui |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Journal of medical genetics 2019 9 57 (2): 96-103. Bayley Jean Pierre, Bausch Birke, Rijken Johannes Adriaan, van Hulsteijn Leonie Theresia, Jansen Jeroen C, Ascher David, Pires Douglas Eduardo Valente, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M, Devilee Peter, Neumann Hartmut P |
[Carney triad]. Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti 2017 9 96 (6): 267-272. Fiala L, Kocáková I, Šim?nek R, Krej?í E, Babánková I, Šefr |
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations. European journal of human genetics : EJHG 2013 Apr 21 (4): 469-70. Heesterman Berdine L, Bayley Jean Pierre, Tops Carli M, Hes Frederik J, van Brussel Bernadette T J, Corssmit Eleonora P M, Hamming Jaap F, van der Mey Andel G L, Jansen Jeroen |
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 |
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 |
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. The Lancet. Oncology 2009 Aug 10 (8): 764-71. van Nederveen Francien H, Gaal José, Favier Judith, Korpershoek Esther, Oldenburg Rogier A, de Bruyn Elly M C A, Sleddens Hein F B M, Derkx Pieter, Rivière Julie, Dannenberg Hilde, Petri Bart-Jeroen, Komminoth Paul, Pacak Karel, Hop Wim C J, Pollard Patrick J, Mannelli Massimo, Bayley Jean-Pierre, Perren Aurel, Niemann Stephan, Verhofstad Albert A, de Bruïne Adriaan P, Maher Eamonn R, Tissier Frédérique, Méatchi Tchao, Badoual Cécile, Bertherat Jérôme, Amar Laurence, Alataki Despoina, Van Marck Eric, Ferrau Francesco, François Jerney, de Herder Wouter W, Peeters Mark-Paul F M Vrancken, van Linge Anne, Lenders Jacques W M, Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R, Dinjens Winand N |
Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 Sep 100 (17): 1260-2. Ricketts Christopher, Woodward Emma R, Killick Pip, Morris Mark R, Astuti Dewi, Latif Farida, Maher Eamonn |
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American journal of human genetics 2008 Aug 83 (2): 261-8. Ni Ying, Zbuk Kevin M, Sadler Tammy, Patocs Attila, Lobo Glenn, Edelman Emily, Platzer Petra, Orloff Mohammed S, Waite Kristin A, Eng Char |
Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. Annals of the New York Academy of Sciences 2006 Aug 1073 (): 138-48. Korpershoek E, Van Nederveen F H, Dannenberg H, Petri B J, Komminoth P, Perren A, Lenders J W, Verhofstad A A, De Herder W W, De Krijger R R, Dinjens W N |
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. American journal of human genetics 2004 Jan 74 (1): 153-9. Vanharanta Sakari, Buchta Mary, McWhinney Sarah R, Virta Sanna K, Peçzkowska Mariola, Morrison Carl D, Lehtonen Rainer, Januszewicz Andrzej, Järvinen Heikki, Juhola Matti, Mecklin Jukka-Pekka, Pukkala Eero, Herva Riitta, Kiuru Maija, Nupponen Nina N, Aaltonen Lauri A, Neumann Hartmut P H, Eng Char |
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. Endokrynologia Polska 0 61 (1): 43-8. Krawczyk Aleksandra, Hasse-Lazar Kornelia, Pawlaczek Agnieszka, Szpak-Ulczok Sylwia, Krajewska Jolanta, Paliczka-Cie?lak Ewa, Jurecka-Lubieniecka Beata, Roskosz Józef, Chmielik Ewa, Ziaja Jacek, Cierpka Lech, Peczkowska Mariola, Preibisz Aleksander, Januszewicz Andrzej, Otto Maciej, Jarzab Barba |
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- Page last updated:Mar 16, 2023
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